Transcript #00024178 (NM_020821.2, VPS13C gene)

Transcript name transcript variant 2A
Gene name VPS13C (vacuolar protein sorting 13 homolog C (S. cerevisiae))
Chromosome 15
Transcript - NCBI ID NM_020821.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_065872.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

106 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.242C>T r.(?) p.(Ala81Val)
-?/. - c.243G>A r.(?) p.(Ala81=)
-?/. - c.426T>C r.(?) p.(Phe142=)
-?/. - c.432C>T r.(?) p.(Tyr144=)
-/. - c.458G>A r.(?) p.(Arg153His)
-?/. - c.511A>G r.(?) p.(Lys171Glu)
?/. - c.716T>C r.(?) p.(Leu239Ser)
?/. - c.734T>C r.(?) p.(Ile245Thr)
+/. 11 c.806_807insCAGA r.(?) p.(Arg269Serfs*14)
?/. - c.917A>C r.(?) p.(Tyr306Ser)
-?/. - c.917A>G r.(?) p.(Tyr306Cys)
?/. - c.925C>G r.(?) p.(Pro309Ala)
-?/. - c.951G>A r.(?) p.(Thr317=)
?/. - c.962A>T r.(?) p.(Asp321Val)
?/. - c.1225A>G r.(?) p.(Lys409Glu)
?/. - c.1343C>T r.(?) p.(Ala448Val)
+?/. 16i_66i c.1353+3556_9106-7010delinsGAAGTGC r.? p.?
-?/. - c.1392T>A r.(?) p.(Ala464=)
+/. - c.1484-2A>G r.spl? p.?
?/. - c.1625C>T r.(?) p.(Thr542Met)
?/. - c.1708G>A r.(?) p.(Ala570Thr)
?/. - c.1723G>T r.(?) p.(Val575Leu)
-?/. - c.1798A>G r.(?) p.(Ile600Val)
?/. - c.1826A>T r.(?) p.(Lys609Ile)
-/. - c.2030-9C>T r.(=) p.(=)
-?/. - c.2271A>G r.(?) p.(Gln757=)
?/. - c.2377G>A r.(?) p.(Ala793Thr)
?/. - c.2597T>G r.(?) p.(Leu866Trp)
?/. - c.2719G>A r.(?) p.(Glu907Lys)
-?/. - c.2797A>G r.(?) p.(Thr933Ala)
?/. - c.2889C>G r.(?) p.(Ser963Arg)
-/. - c.2921G>A r.(?) p.(Arg974Lys)
-?/. - c.2928C>T r.(?) p.(Pro976=)
-?/. - c.3234T>C r.(?) p.(Asp1078=)
-/. - c.3394A>G r.(?) p.(Ile1132Val)
?/. - c.3712C>T r.(?) p.(Arg1238Cys)
?/. - c.3713G>A r.(?) p.(Arg1238His)
-/. - c.3777C>G r.(?) p.(Thr1259=)
+/. 37 c.4165G>C r.[4165g>c;4165_4166ins4165+1_4165+14] p.Gly1389Argfs*27
-?/. - c.4166-8C>A r.(=) p.(=)
?/. - c.4249del r.(?) p.(Ile1417LeufsTer4)
-?/. - c.4447G>A r.(?) p.(Asp1483Asn)
-?/. - c.4506C>T r.(?) p.(Asp1502=)
-?/. - c.4567A>G r.(?) p.(Ile1523Val)
?/. - c.4669G>C r.(?) p.(Ala1557Pro)
-?/. - c.4710C>T r.(?) p.(Ser1570=)
?/. - c.4745_4751del r.(?) p.(Ile1582ThrfsTer16)
-?/. - c.4747G>A r.(?) p.(Ala1583Thr)
-/. - c.4760-3dup r.spl? p.?
+/. 43 c.4777del r.(?) p.(Gln1593Lysfs*7)
-?/. - c.4818T>C r.(?) p.(Asn1606=)
-?/. - c.4901A>C r.(?) p.(Lys1634Thr)
-?/. - c.5060C>T r.(?) p.(Ala1687Val)
-?/. - c.5148+10T>A r.(=) p.(=)
-?/. - c.5149-9T>C r.(=) p.(=)
-?/. - c.5265G>A r.(?) p.(Leu1755=)
-?/. - c.5313A>G r.(?) p.(Ser1771=)
-?/. - c.5760A>G r.(?) p.(Gln1920=)
-/. - c.6038+16G>A r.(=) p.(=)
-?/. - c.6060C>T r.(?) p.(Asp2020=)
?/. - c.6353C>T r.(?) p.(Ala2118Val)
-?/. - c.6450T>C r.(?) p.(Ser2150=)
-?/. - c.6471C>T r.(?) p.(Leu2157=)
-?/. - c.6805C>T r.(?) p.(His2269Tyr)
-?/. - c.6815T>C r.(?) p.(Ile2272Thr)
?/. - c.6845C>T r.(?) p.(Ser2282Phe)
-/. - c.7139A>G r.(?) p.(His2380Arg)
-?/. - c.7276G>A r.(?) p.(Val2426Ile)
?/. - c.7298C>G r.(?) p.(Pro2433Arg)
?/. - c.7298C>T r.(?) p.(Pro2433Leu)
-?/. - c.7478-9C>T r.(=) p.(=)
?/. - c.7609A>G r.(?) p.(Lys2537Glu)
?/. - c.7624C>T r.(?) p.(Arg2542Cys)
?/. - c.7644A>C r.(?) p.(Lys2548Asn)
-?/. - c.7761-6C>T r.(=) p.(=)
-/. - c.8238A>G r.(?) p.(Thr2746=)
-?/. - c.8268C>T r.(?) p.(His2756=)
-?/. - c.8279T>C r.(?) p.(Ile2760Thr)
?/. - c.8353C>T r.(?) p.(Arg2785Cys)
?/. - c.8366T>A r.(?) p.(Ile2789Asn)
+/. 61i c.8445+2T>G r.[8215_8445del, ?] p.?
?/. - c.8711C>T r.(?) p.(Ser2904Leu)
-?/. - c.8716-8A>G r.(=) p.(=)
?/. - c.8716T>A r.(?) p.(Cys2906Ser)
-/. - c.8738G>A r.(?) p.(Ser2913Asn)
-?/. - c.8766G>C r.(?) p.(Val2922=)
?/. - c.8908dup r.(?) p.(Tyr2970LeufsTer3)
-?/. - c.8979-9G>T r.(=) p.(=)
-?/. - c.9035C>A r.(?) p.(Ala3012Glu)
?/. - c.9106G>A r.(?) p.(Asp3036Asn)
?/. - c.9411_9412del r.(?) p.(Leu3137PhefsTer18)
-?/. - c.9526C>G r.(?) p.(Arg3176Gly)
+/. 69 c.9568G>T r.(?) p.(Glu3190*)
?/. - c.9595A>G r.(?) p.(Ser3199Gly)
-?/. - c.10029C>T r.(?) p.(Ser3343=)
?/. - c.10030G>A r.(?) p.(Gly3344Arg)
?/. - c.10085A>G r.(?) p.(Asn3362Ser)
?/. - c.10105G>A r.(?) p.(Gly3369Ser)
-?/. - c.10164A>G r.(?) p.(Arg3388=)
-?/. - c.10225-6T>C r.(=) p.(=)
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