(used for variant description)
(last modified February 12, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_006035.3 in the CDC42BPB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering CDC42BPB transcript NM_006035.3.
(upstream sequence)
. . . . . g.5052
aggggaggagagcggcccatggacccgcggggcccggcgccccagactctgc c.-181
. . . . . . g.5112
gccgtcgggacggagcccaagatgtcggcctaggccggggcgcgacgacgcggacggggc c.-121
. . . . . . g.5172
ggcgaggaggcgccgctgctgccggggctcgcagccgccgagcccccgagggcgcgccct c.-61
. . . . . . g.5232
gacggactggccgagccggcggtgagaggccggcgcgtcgggagcgggccgcgcggcacc c.-1
. . . . . . g.5292
ATGTCGGCCAAGGTGCGGCTCAAGAAGCTGGAGCAGCTGCTCCTGGACGGGCCCTGGCGC c.60
M S A K V R L K K L E Q L L L D G P W R p.20
. . . . . . g.5352
AACGAGAGCGCCCTGAGCGTGGAAACGCTGCTCGACGTGCTCGTCTGCCTGTACACCGAG c.120
N E S A L S V E T L L D V L V C L Y T E p.40
. . . . . | 02 . g.50222
TGCAGCCACTCGGCCCTGCGCCGCGACAAGTACGTGGCCGAGTTCCTCGAGTGGG | CTAAA c.180
C S H S A L R R D K Y V A E F L E W A | K p.60
. . . . . . g.50282
CCATTTACACAGCTGGTGAAAGAAATGCAGCTTCATCGAGAAGACTTTGAAATAATTAAA c.240
P F T Q L V K E M Q L H R E D F E I I K p.80
. . | 03. . . . g.53883
GTAATTGGAAGAGGTGCTTTTGGTGAG | GTTGCTGTTGTCAAAATGAAGAATACTGAACGA c.300
V I G R G A F G E | V A V V K M K N T E R p.100
. . . . . | 04 . g.58391
ATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAG | ACCGCGTGC c.360
I Y A M K I L N K W E M L K R A E | T A C p.120
. . . . . . g.58451
TTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCAC c.420
F R E E R D V L V N G D C Q W I T A L H p.140
. . | 05. . . . g.62725
TACGCCTTTCAGGACGAGAACCACCTG | TACTTAGTCATGGATTACTATGTGGGTGGTGAT c.480
Y A F Q D E N H L | Y L V M D Y Y V G G D p.160
. . . . . . g.62785
TTACTGACCCTGCTCAGCAAATTTGAAGACAAGCTTCCGGAAGATATGGCGAGGTTCTAC c.540
L L T L L S K F E D K L P E D M A R F Y p.180
. . . . . | 06 . g.75829
ATTGGTGAAATGGTGCTGGCCATTGACTCCATCCATCAGCTTCATTACGTGCACAG | AGAC c.600
I G E M V L A I D S I H Q L H Y V H R | D p.200
. . . . . . g.75889
ATTAAACCTGACAATGTCCTTTTGGACGTGAATGGTCATATCCGCCTGGCTGACTTTGGA c.660
I K P D N V L L D V N G H I R L A D F G p.220
. . . | 07 . . . g.78679
TCATGTTTGAAGATGAATGATGATGGCACT | GTGCAGTCCTCCGTGGCCGTGGGCACACCT c.720
S C L K M N D D G T | V Q S S V A V G T P p.240
. . . . . . g.78739
GACTACATCTCGCCGGAGATCCTGCAGGCGATGGAGGACGGCATGGGCAAATACGGGCCT c.780
D Y I S P E I L Q A M E D G M G K Y G P p.260
. . . . . . g.78799
GAGTGTGACTGGTGGTCTCTGGGTGTCTGCATGTATGAGATGCTCTATGGAGAAACGCCG c.840
E C D W W S L G V C M Y E M L Y G E T P p.280
. . . . . | 08 . g.81393
TTTTATGCGGAGTCACTCGTGGAGACCTATGGGAAGATCATGAACCATGAA | GAGCGATTC c.900
F Y A E S L V E T Y G K I M N H E | E R F p.300
. . . . . . g.81453
CAGTTCCCATCCCATGTCACGGATGTATCTGAAGAAGCGAAGGACCTCATCCAGAGACTG c.960
Q F P S H V T D V S E E A K D L I Q R L p.320
. . . . . . g.81513
ATCTGCAGTAGAGAACGCCGGCTGGGGCAGAATGGAATAGAGGATTTCAAAAAGCATGCG c.1020
I C S R E R R L G Q N G I E D F K K H A p.340
. . . . . . g.81573
TTTTTTGAAGGTCTAAATTGGGAAAATATACGAAACCTAGAAGCACCTTATATTCCTGAT c.1080
F F E G L N W E N I R N L E A P Y I P D p.360
. . . . . . g.81633
GTGAGCAGTCCCTCTGACACATCCAACTTCGACGTGGATGACGACGTGCTGAGAAACACG c.1140
V S S P S D T S N F D V D D D V L R N T p.380
| 09 . . . . . . g.84260
| GAAATATTACCTCCTGGTTCTCACACAGGCTTTTCTGGATTACATTTGCCATTCATTGGT c.1200
| E I L P P G S H T G F S G L H L P F I G p.400
. . | 10 . . . . g.86396
TTTACATTCACAACGGAAAG | CTGTTTTTCTGATCGAGGCTCTCTGAAGAGCATAATGCAG c.1260
F T F T T E S | C F S D R G S L K S I M Q p.420
. . . . . . g.86456
TCCAACACATTAACCAAAGATGAGGATGTGCAGCGGGACCTGGAGCACAGCCTGCAGATG c.1320
S N T L T K D E D V Q R D L E H S L Q M p.440
. . . . . . g.86516
GAAGCTTACGAGAGGAGGATTCGGAGGCTGGAACAGGAGAAGCTGGAGCTGAGCAGGAAG c.1380
E A Y E R R I R R L E Q E K L E L S R K p.460
| 11. . . . . . g.86655
CTGCAAG | AGTCCACCCAGACCGTGCAGTCCCTCCACGGCTCATCTCGGGCCCTCAGCAAT c.1440
L Q E | S T Q T V Q S L H G S S R A L S N p.480
. . . . . . g.86715
TCAAACCGAGATAAAGAAATCAAAAAGCTAAATGAAGAAATCGAACGCTTGAAGAATAAA c.1500
S N R D K E I K K L N E E I E R L K N K p.500
| 12. . . . . . g.88309
ATAGCAG | ATTCAAACAGGCTCGAGCGACAGCTTGAGGACACAGTGGCGCTTCGCCAAGAG c.1560
I A D | S N R L E R Q L E D T V A L R Q E p.520
. . . . . . g.88369
CGTGAGGACTCCACGCAGCGGCTGCGGGGGCTGGAGAAGCAGCACCGCGTGGTCCGGCAG c.1620
R E D S T Q R L R G L E K Q H R V V R Q p.540
. . | 13 . . . . g.90283
GAGAAGGAGGAGCTGCACAAG | CAACTGGTTGAAGCCTCAGAGCGGTTGAAATCCCAGGCC c.1680
E K E E L H K | Q L V E A S E R L K S Q A p.560
. . . . . . g.90343
AAGGAACTCAAAGATGCCCATCAGCAGCGAAAGCTGGCCCTGCAGGAGTTCTCGGAGCTG c.1740
K E L K D A H Q Q R K L A L Q E F S E L p.580
. . . . . . g.90403
AACGAGCGCATGGCAGAGCTCCGTGCCCAGAAGCAGAAGGTGTCCCGGCAGCTGCGAGAC c.1800
N E R M A E L R A Q K Q K V S R Q L R D p.600
. . . . . . g.90463
AAGGAGGAGGAGATGGAGGTGGCCACGCAGAAGGTGGACGCCATGCGGCAGGAAATGCGG c.1860
K E E E M E V A T Q K V D A M R Q E M R p.620
. . | 14 . . . . g.92180
AGAGCTGAGAAGCTCAGGAAAGAG | CTGGAAGCTCAGCTTGATGATGCTGTTGCTGAGGCC c.1920
R A E K L R K E | L E A Q L D D A V A E A p.640
. . . . . . g.92240
TCCAAGGAGCGCAAGCTTCGTGAGCACAGCGAGAACTTCTGCAAGCAAATGGAAAGCGAG c.1980
S K E R K L R E H S E N F C K Q M E S E p.660
. | 15 . . . . . g.93734
CTGGAGGCCCTCAAG | GTGAAGCAAGGAGGCCGGGGAGCGGGTGCCACCTTAGAGCACCAG c.2040
L E A L K | V K Q G G R G A G A T L E H Q p.680
. . . . . . g.93794
CAAGAGATTTCCAAAATCAAATCCGAGCTGGAGAAGAAAGTCTTATTTTATGAAGAGGAA c.2100
Q E I S K I K S E L E K K V L F Y E E E p.700
. . . . . . g.93854
TTGGTCAGACGTGAGGCCTCCCATGTGCTAGAAGTGAAAAATGTGAAGAAGGAGGTGCAT c.2160
L V R R E A S H V L E V K N V K K E V H p.720
. . . . . . g.93914
GATTCAGAAAGCCACCAGCTGGCCCTGCAGAAAGAAATCTTGATGTTAAAAGATAAGTTA c.2220
D S E S H Q L A L Q K E I L M L K D K L p.740
. . | 16 . . . . g.94087
GAAAAGTCAAAGCGAGAACG | GCATAACGAGATGGAGGAGGCAGTAGGTACAATAAAAGAT c.2280
E K S K R E R | H N E M E E A V G T I K D p.760
. . . . . . g.94147
AAATACGAACGAGAAAGAGCGATGCTGTTTGATGAAAACAAGAAGCTAACTGCTGAAAAT c.2340
K Y E R E R A M L F D E N K K L T A E N p.780
| 17 . . . . . . g.95289
GAAAAG | CTCTGTTCCTTTGTGGATAAACTCACAGCTCAAAATAGACAGCTGGAGGATGAG c.2400
E K | L C S F V D K L T A Q N R Q L E D E p.800
. . . . . . g.95349
CTGCAGGATCTGGCAGCCAAGAAGGAGTCAGTGGCCCACTGGGAAGCTCAGATTGCGGAA c.2460
L Q D L A A K K E S V A H W E A Q I A E p.820
. | 18 . . . . . g.96067
ATCATTCAGTG | GGTCAGTGACGAGAAAGATGCCCGGGGTTACCTTCAAGCTCTTGCTTCC c.2520
I I Q W | V S D E K D A R G Y L Q A L A S p.840
. . . . . | 19. g.97758
AAGATGACCGAAGAGCTCGAGGCTTTGAGGAGTTCTAGTCTGGGGTCAAGAACACTG | GAC c.2580
K M T E E L E A L R S S S L G S R T L | D p.860
. . . . . . g.97818
CCGCTGTGGAAGGTGCGCCGCAGCCAGAAGCTGGACATGTCCGCGCGGCTGGAGCTGCAG c.2640
P L W K V R R S Q K L D M S A R L E L Q p.880
. . . . . . g.97878
TCGGCCCTGGAGGCGGAGATCCGGGCCAAGCAGCTTGTCCAGGAGGAGCTCAGGAAGGTC c.2700
S A L E A E I R A K Q L V Q E E L R K V p.900
. . | 20 . . . . g.99284
AAGGACGCCAACCTCACCTTGGAAAG | CAAACTAAAGGATTCCGAAGCCAAAAACAGAGAA c.2760
K D A N L T L E S | K L K D S E A K N R E p.920
. . . . . . g.99344
TTATTAGAAGAAATGGAAATTTTGAAGAAAAAGATGGAAGAAAAATTCAGAGCAGATACT c.2820
L L E E M E I L K K K M E E K F R A D T p.940
| 21 . . . . . . g.102754
G | GGCTCAAACTTCCAGATTTTCAGGATTCCATTTTTGAGTATTTCAACACTGCTCCTCTT c.2880
G | L K L P D F Q D S I F E Y F N T A P L p.960
. . | 22 . . . . g.107756
GCACATGACCTGACATTTAGA | ACCAGCTCAGCTAGTGAGCAAGAAACACAAGCTCCGAAG c.2940
A H D L T F R | T S S A S E Q E T Q A P K p.980
. . . . | 23 . g.108142
CCAGAAGCGTCCCCGTCGATGTCTGTGGCTGCATCAGAGCAGCAGGAG | GACATGGCTCGG c.3000
P E A S P S M S V A A S E Q Q E | D M A R p.1000
. . . . . . g.108202
CCCCCGCAGAGGCCATCCGCTGTGCCGTTGCCCACCACGCAGGCCCTGGCTCTGGCTGGA c.3060
P P Q R P S A V P L P T T Q A L A L A G p.1020
| 24 . . . . . . g.109856
CCGAAG | CCAAAAGCTCACCAGTTCAGCATCAAGTCCTTCTCCAGCCCTACTCAGTGCAGC c.3120
P K | P K A H Q F S I K S F S S P T Q C S p.1040
. . . . . | 25 . g.111811
CACTGCACCTCCCTGATGGTTGGGCTGATCCGGCAGGGCTACGCCTGCGAGG | TGTGTTCC c.3180
H C T S L M V G L I R Q G Y A C E V | C S p.1060
. . . . . . g.111871
TTTGCTTGCCACGTGTCCTGCAAAGACGGTGCCCCCCAGGTGTGCCCAATACCTCCCGAG c.3240
F A C H V S C K D G A P Q V C P I P P E p.1080
. . . . . . g.111931
CAGTCCAAGAGGCCTCTGGGCGTGGACGTGCAGCGAGGCATCGGAACAGCCTACAAAGGC c.3300
Q S K R P L G V D V Q R G I G T A Y K G p.1100
| 26 . . . . . g.112552
CATGTCAAG | GTCCCAAAGCCCACGGGGGTGAAGAAGGGATGGCAGCGCGCATATGCAGTC c.3360
H V K | V P K P T G V K K G W Q R A Y A V p.1120
. . . . . . g.112612
GTCTGTGACTGCAAGCTCTTCCTGTATGATCTGCCTGAAGGAAAATCCACCCAGCCTGGT c.3420
V C D C K L F L Y D L P E G K S T Q P G p.1140
. . | 27 . . . g.114634
GTCATTGCGAGCCAAGTCTTGGATCTCAG | AGATGACGAGTTTTCCGTGAGCTCAGTCCTG c.3480
V I A S Q V L D L R | D D E F S V S S V L p.1160
. . . . . | 28 . g.115730
GCCTCAGATGTCATTCATGCTACACGCCGAGATATTCCATGTATATTCAGG | GTGACGGCC c.3540
A S D V I H A T R R D I P C I F R | V T A p.1180
. . . . . . g.115790
TCTCTCTTAGGTGCACCTTCTAAGACCAGCTCGCTGCTCATTCTGACAGAAAATGAGAAT c.3600
S L L G A P S K T S S L L I L T E N E N p.1200
. . . . . . g.115850
GAAAAGAGGAAGTGGGTTGGGATTCTAGAAGGACTCCAGTCCATCCTTCATAAAAACCGG c.3660
E K R K W V G I L E G L Q S I L H K N R p.1220
. . . . . . g.115910
CTGAGGAATCAGGTCGTGCATGTTCCCTTGGAAGCCTACGACAGCTCGCTGCCTCTCATC c.3720
L R N Q V V H V P L E A Y D S S L P L I p.1240
. . | 29 . . . g.116713
AAGGCCATCCTGACAGCTGCCATCGTGG | ATGCAGACAGGATTGCAGTCGGCCTAGAAGAA c.3780
K A I L T A A I V D | A D R I A V G L E E p.1260
. . . | 30 . . . g.117947
GGGCTCTATGTCATAGAGGTCACCCGAGATG | TGATCGTCCGTGCCGCTGACTGTAAGAAG c.3840
G L Y V I E V T R D V | I V R A A D C K K p.1280
. . . . . . g.118007
GTACACCAGATCGAGCTTGCTCCCAGGGAGAAGATCGTAATCCTCCTCTGTGGCCGGAAC c.3900
V H Q I E L A P R E K I V I L L C G R N p.1300
. . . . . . g.118067
CACCATGTGCACCTCTATCCGTGGTCGTCCCTTGATGGAGCGGAAGGCAGCTTTGACATC c.3960
H H V H L Y P W S S L D G A E G S F D I p.1320
. . . . . . g.118127
AAGCTTCCGGAAACCAAAGGCTGCCAGCTCATGGCCACGGCCACACTCAAGAGGAACTCT c.4020
K L P E T K G C Q L M A T A T L K R N S p.1340
. . . . . . g.118187
GGCACCTGCCTGTTTGTGGCCGTGAAACGGCTGATCCTTTGCTATGAGATCCAGAGAACG c.4080
G T C L F V A V K R L I L C Y E I Q R T p.1360
. . . . . . g.118247
AAGCCATTCCACAGAAAGTTCAATGAGATTGTGGCTCCCGGCAGCGTGCAGTGCCTGGCG c.4140
K P F H R K F N E I V A P G S V Q C L A p.1380
. . . . . . g.118307
GTGCTCAGGGACAGGCTCTGTGTGGGCTACCCTTCTGGGTTCTGCCTGCTGAGCATCCAG c.4200
V L R D R L C V G Y P S G F C L L S I Q p.1400
. . . . . . g.118367
GGGGACGGGCAGCCTCTAAACCTGGTAAATCCCAATGACCCCTCGCTTGCGTTCCTCTCA c.4260
G D G Q P L N L V N P N D P S L A F L S p.1420
. . . . . . g.118427
CAACAGTCTTTTGATGCCCTTTGTGCTGTGGAGCTCGAAAGCGAGGAGTACCTGCTTTGC c.4320
Q Q S F D A L C A V E L E S E E Y L L C p.1440
. . . . . . g.118487
TTCAGCCACATGGGACTGTACGTGGACCCGCAAGGCCGGAGGGCACGCGCGCAGGAGCTC c.4380
F S H M G L Y V D P Q G R R A R A Q E L p.1460
. . | 31 . . . g.122113
ATGTGGCCTGCGGCTCCTGTCGCCTGTA | GTTGCAGCCCCACCCACGTCACGGTGTACAGC c.4440
M W P A A P V A C S | C S P T H V T V Y S p.1480
. . . . . . g.122173
GAGTATGGCGTGGACGTCTTTGATGTGCGCACCATGGAGTGGGTGCAGACCATCGGCCTG c.4500
E Y G V D V F D V R T M E W V Q T I G L p.1500
| 32 . . . . . . g.122329
CGGAGG | ATAAGGCCCCTGAACTCTGAAGGCACCCTCAACCTCCTCAACTGCGAGCCTCCA c.4560
R R | I R P L N S E G T L N L L N C E P P p.1520
. . . | 33 . . . g.122487
CGCTTGATCTACTTCAAGAGCAAGTTCTCGG | GAGCGGTTCTCAACGTGCCGGACACCTCC c.4620
R L I Y F K S K F S G | A V L N V P D T S p.1540
. . . . . . g.122547
GACAACAGCAAGAAGCAGATGCTGCGCACCAGGAGCAAAAGGCGGTTCGTCTTCAAGGTC c.4680
D N S K K Q M L R T R S K R R F V F K V p.1560
. . | 34 . . . g.122709
CCAGAGGAAGAGAGACTGCAGCAGAGGCG | AGAGATGCTTAGAGACCCAGAATTGAGATCC c.4740
P E E E R L Q Q R R | E M L R D P E L R S p.1580
. . . . . . g.122769
AAAATGATATCCAACCCAACCAACTTCAACCACGTGGCCCACATGGGCCCAGGCGACGGC c.4800
K M I S N P T N F N H V A H M G P G D G p.1600
. . | 35. . . . g.124027
ATGCAGGTGCTCATGGACCTGCCTCTG | AGTGCTGTGCCCCCCTCCCAGGAGGAAAGGCCG c.4860
M Q V L M D L P L | S A V P P S Q E E R P p.1620
. . . . . . g.124087
GGCCCCGCTCCCACCAACCTGGCTCGCCAGCCTCCATCCAGGAACAAGCCCTACATCTCG c.4920
G P A P T N L A R Q P P S R N K P Y I S p.1640
. | 36 . . . . . g.124278
TGGCCCTCATCAG | GTGGATCGGAGCCTAGCGTGACTGTGCCTCTGAGAAGTATGTCTGAT c.4980
W P S S G | G S E P S V T V P L R S M S D p.1660
. . | 37 . . . . g.128598
CCAGACCAGGACTTTGACAAAGAG | CCTGATTCGGACTCCACCAAACACTCAACTCCATCG c.5040
P D Q D F D K E | P D S D S T K H S T P S p.1680
. . . . . . g.128658
AATAGCTCCAACCCCAGCGGCCCACCGAGCCCCAACTCCCCCCACAGGAGCCAGCTCCCC c.5100
N S S N P S G P P S P N S P H R S Q L P p.1700
. . . g.128694
CTCGAAGGCCTGGAGCAGCCGGCCTGTGACACCTGA c.5136
L E G L E Q P A C D T X p.1711
. . . . . . g.128754
agccgccagctcgccacaggggccagggagctggagatggcctccagcgtcagtgccaag c.*60
. . . . . . g.128814
actgagcgggccctccagtgttgtccaaggaaatgtagaatcactttgtagatatggaga c.*120
. . . . . . g.128874
tgaagaagacaaatctttattataatattgatcagttttatgccgcattgttcgtggcag c.*180
. . . . . . g.128934
tagaccacatctgttcgtctgcacagctgtgaggcgatgctgttccatctgcacatgaag c.*240
. . . . . . g.128994
gacccccatacagcctgtctcccacccctgacaacccgagagggcatatggggccctgcc c.*300
. . . . . . g.129054
aacaccacttcctcagcagaaacccgtcatgacgcggctgcttcggaagcagacatctgg c.*360
. . . . . . g.129114
ggacacagcctcagtacccagtcttttccctagttcctgaaactttcctaggaccttaag c.*420
. . . . . . g.129174
agaatagtaggaggtcctatagcattcccagtgtcactagaattttgaagacaggaaagt c.*480
. . . . . . g.129234
ggaggttagtctgtggcctttttttcatttagccattgcacagtcagctgcagaagtcct c.*540
. . . . . . g.129294
gctgaccacctagtcatggacaaaggcccaggaccagtgacaccctgcgtccctgtgtgc c.*600
. . . . . . g.129354
attaagttcattctgggtcgcagccatgaagtgtcaccagtatctactactgtgaagtca c.*660
. . . . . . g.129414
gctgtgctgttttccattcgcttccacggcttctgcctcctgccataaaaccagcgagtg c.*720
. . . . . . g.129474
tcgtggtgcaggcaggccctgtggcctgctgggctgagggaagtcagagccccagggcgc c.*780
. . . . . . g.129534
cacgaagcagccactgggataccccaccccgccccgccctgcccgcccccccccccacca c.*840
. . . . . . g.129594
gtcctgcccccgcatggagcccccgtgattagtagcccgtatgatcacgtagacccaccc c.*900
. . . . . . g.129654
aacacactcctgcacactggccccggcccacggcacagcaatcccctgcgcgtggatttc c.*960
. . . . . . g.129714
acctcaccctttgtaccagatgttgagtgaccagctctgtggccctgtgtcgtcagaggc c.*1020
. . . . . . g.129774
ttgtgattaactgtggcggcagacacagcttgtccacagcttgggccaggcttcccctgt c.*1080
. . . . . . g.129834
cctcccaccggtcggctgcttggcaaggctgttcaggacgtgcacttccccaagtcggca c.*1140
. . . . . . g.129894
ctgagtggcccagcaccgcctagccctgccaccccactgccctcctgggccttctgctgg c.*1200
. . . . . . g.129954
atgggcacctggggggttctggtttttacttttttaatgtaagtctcagtctttgtaatt c.*1260
. . . . . . g.130014
aattattgaattgtgagaacatttttgaacaatttacctgtcaataaagcagaagacggc c.*1320
. g.130027
agttttaaagttc c.*1333
(downstream sequence)
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