Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.E429*

ATP6V0A4

239 papers

RefSeq Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is ne...

Pfam Domains

V_ATPase_Iaa 27–830UCSCV-type ATPase 116kDa subunit family

Gene Aliases

HGNC Name

ATPase H+ transporting V0 subunit a4

HGNC Previous Symbols

ATP6N1B; ATP6N2; RTA1C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020632.3
p.E429*
c.1285G>T
Surrounding Variants
1 paper
NM_020632.3
p.V417_E429del13
c.1249_1286del39
1 paper
NM_020632.3
p.S434F
c.1301C>T
2 papers
NM_020632.3
p.D438fs
c.1312_1313fs
1 paper
NM_020632.3
p.D438delFs
c.1312_1313delTC
1 paper
NM_020632.3
p.N439I
c.1316A>T
4 papers
NM_020632.3
p.D438_N439delFs
c.1312_1315del4
1 paper
NM_020632.3
p.H414_G415insFs
c.1242_1243insC
7 papers
NM_020632.3
p.D411Y
c.1231G>T
1 paper
NM_020632.3
p.D411N
c.1231G>A
1 paper
NM_020632.3
p.G410E
c.1229G>A
1 paper
NM_020632.3
p.M408fs
c.1222_1223fs
2 papers
NM_020632.3
p.V407delFs
c.1221delC
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