Varaico: Literature-Extracted Genetic Variants

ATP6V0A1

83 papers

RefSeq Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is nec...

Pfam Domains

V_ATPase_Iaa 27–144UCSCV-type ATPase 116kDa subunit family

V_ATPase_Iaa 27–852UCSCV-type ATPase 116kDa subunit family

Gene Aliases

HGNC Name

ATPase H+ transporting V0 subunit a1

HGNC Previous Symbols

VPP1; ATP6N1; ATP6N1A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001130021.3

p.N262I

c.785A>T

Surrounding Variants

1 paper

NM_001130021.3

p.R264S

c.792G>C

1 paper

NM_001130021.3

p.R264S

c.792G>T

1 paper

NM_001130021.3

p.D213D

c.639C>T

1 paper

NM_001130021.3

p.G212D

c.635G>A

1 paper

NM_001130021.3

p.K299R

c.896A>G

1 paper

NM_001130021.3

p.L307Q

c.920T>A

1 paper

NM_001130021.3

p.V314E

c.941T>A

1 paper

NM_001130021.3

p.D329Y

c.985G>T

1 paper

NM_001130021.3

p.L206P

c.617T>C

1 paper

NM_001130021.3

p.P205T

c.613C>A

1 paper

NM_001130021.3

p.N204S

c.611A>G

2 papers

NM_001130021.3

p.E149fs

c.445_446fs