Transcript #00023817 (NM_001256469.1, KAT6B gene)

Transcript name transcript variant 3
Gene name KAT6B (K(lysine) acetyltransferase 6B)
Chromosome 10
Transcript - NCBI ID NM_001256469.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001243398.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

100 entries on 1 page. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-615279_*1736057del r.? p.?
?/. - c.2T>C r.(?) p.(Met1?)
-?/. - c.262T>G r.(?) p.(Phe88Val)
-?/. - c.375C>T r.(?) p.(Ser125=)
-?/. - c.431A>C r.(?) p.(Asn144Thr)
?/. - c.928G>C r.(?) p.(Gly310Arg)
-/. - c.929-12A>G r.(=) p.(=)
+/. - c.1006C>T r.(?) p.(Arg336Ter)
+/. - c.1009C>T r.(?) p.(Arg337Ter)
+/. - c.1014T>G r.(?) p.(Tyr338*)
-?/. - c.1025T>C r.(?) p.(Ile342Thr)
+?/. - c.1030C>T r.(?) p.(Arg344Ter)
./. - c.1045_1049del r.(?) p.(Leu349Alafs*9)
?/. - c.1117+79T>C r.(=) p.(=)
-?/. - c.1117+165A>C r.(=) p.(=)
+/. - c.1117+237C>T r.(=) p.(=)
?/. - c.1117+395C>A r.(=) p.(=)
?/. - c.1117+446T>G r.(=) p.(=)
-?/. - c.1117+546G>A r.(=) p.(=)
-?/. - c.1145A>T r.(?) p.(Gln382Leu)
-?/. - c.1343A>G r.(?) p.(Gln448Arg)
+/. - c.1375dup r.(?) p.(Cys459Leufs*2)
./. - c.1423C>T r.(?) p.(His475Tyr)
./. - c.1423C>T r.(?) p.(His475Tyr)
./. - c.1423C>T r.(?) p.(His475Tyr)
+/. - c.1471C>T r.(?) p.(Arg491Ter)
?/. - c.1659G>A r.(?) p.(Lys553=)
?/. - c.1666C>T r.(?) p.(Leu556Phe)
./. - c.1760T>A r.(?) p.(Leu587*)
?/. - c.1877A>G r.(?) p.(His626Arg)
?/. - c.1972_1973del r.(?) p.(Lys658Glufs*9)
+/. - c.2012T>A r.(?) p.(Leu671Ter)
?/. - c.2044T>C r.(?) p.(Cys682Arg)
-?/. - c.2145+3A>G r.spl? p.?
+/. - c.2271G>A r.(?) p.(Pro757=)
./. - c.2271G>A r.(=) p.(=)
./. - c.2271G>A r.(=) p.(=)
./. - c.2271G>A r.(=) p.(=)
+/. - c.2296C>T r.(?) p.(Arg766Ter)
?/. - c.2297G>A r.(?) p.(Arg766Gln)
-?/. - c.2355_2366del r.(?) p.(Asp785_Glu788del)
-?/. - c.2355_2366del r.(?) p.(Asp785_Glu788del)
+/. - c.2365G>T r.(?) p.(Glu789Ter)
-/. - c.2376_2378del r.(?) p.(Glu797del)
-?/. - c.2376_2387del r.(?) p.(Glu794_Glu797del)
-?/. - c.2379A>G r.(?) p.(Glu793=)
-?/. - c.2382A>C r.(?) p.(Glu794Asp)
-?/. - c.2388A>G r.(?) p.(Glu796=)
-/. - c.2434_2436del r.(?) p.(Glu812del)
-/. - c.2434_2436del r.(?) p.(Glu812del)
-/. - c.2434_2436dup r.(?) p.(Glu812dup)
-?/. - c.2434_2436dup r.(?) p.(Glu812dup)
-?/. - c.2434_2436dup r.(?) p.(Glu812dup)
./. - c.2730_2733del r.(?) p.(Thr911Argfs*21)
-/. - c.2773G>T r.(?) p.(Ala925Ser)
?/. - c.2773G>T r.(?) p.(Ala925Ser)
+/. - c.2789-1G>A r.spl? p.?
-?/. - c.2842G>A r.(?) p.(Glu948Lys)
-?/. - c.2853G>C r.(?) p.(Lys951Asn)
./. - c.2860C>T r.(?) p.(Gln954*)
-?/. - c.3052G>C r.(?) p.(Glu1018Gln)
-?/. - c.3116C>G r.(?) p.(Ala1039Gly)
?/. - c.3160G>T r.(?) p.(Asp1054Tyr)
-?/. - c.3198_3203del r.(?) p.(Glu1075_Glu1076del)
+?/. - c.3220G>T r.(?) p.(Glu1074*)
-/. - c.3221_3229del r.(?) p.(Glu1074_Glu1076del)
-/. - c.3221_3229del r.(?) p.(Glu1074_Glu1076del)
-/. - c.3221_3229dup r.(?) p.(Glu1074_Glu1076dup)
-?/. - c.3221_3229dup r.(?) p.(Glu1074_Glu1076dup)
-?/. - c.3242_3244dup r.(?) p.(Glu1081dup)
./. - c.3295G>T r.(?) p.(Glu1099*)
./. - c.3329_3330del r.(?) p.(Ser1110Cysfs*5)
-?/. - c.3335G>A r.(?) p.(Arg1112His)
-/. - c.3402C>T r.(?) p.(Ala1134=)
-?/. - c.3548T>G r.(?) p.(Met1183Arg)
-/. - c.3619G>A r.(?) p.(Val1207Ile)
-?/. - c.3619G>A r.(?) p.(Val1207Ile)
-/. - c.3619G>A r.(?) p.(Val1207Ile)
-/. - c.3619G>A r.(?) p.(Val1207Ile)
./. - c.3696dup r.(?) p.(Thr1233Tyrfs*16)
./. - c.3716del r.(?) p.(Asn1239Thrfs*18)
-?/. - c.3755C>A r.(?) p.(Ala1252Asp)
-?/. - c.3959G>A r.(?) p.(Arg1320His)
-?/. - c.3959G>A r.(?) p.(Arg1320His)
-?/. - c.3959G>A r.(?) p.(Arg1320His)
./. - c.4139G>C r.(?) p.(Ser1380Thr)
./. - c.4165G>A r.(?) p.(Glu1389Lys)
+/. - c.4270C>T r.(?) p.(Gln1424Ter)
./. - c.4325_4334dup r.(?) p.(Gln1445Hisfs*41)
?/. - c.4403C>T r.(?) p.(Pro1468Leu)
-?/. - c.4404G>A r.(?) p.(Pro1468=)
?/. - c.4451C>A r.(?) p.(Thr1484Asn)
./. - c.4513C>T r.(?) p.(Arg1505*)
+?/. - c.4537del r.(?) p.(Ala1513LeufsTer19)
?/. - c.4607T>C r.(?) p.(Ile1536Thr)
./. - c.4616C>G r.(?) p.(Ser1539*)
+/. - c.4701del r.(?) p.(Gln1568Asnfs*19)
./. - c.4997delinsC r.(=) p.(=)
-?/. - c.5003C>T r.(?) p.(Thr1668Met)
?/. - c.5291A>G r.(?) p.(Tyr1764Cys)
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