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.V52L

c.154G>T

Surrounding Variants

1 paper

NM_001130021.3

p.V52L

c.154G>C

1 paper

NM_001130021.3

p.F51S

c.152T>C

1 paper

NM_001130021.3

p.R56S

c.168A>T

1 paper

NM_001130021.3

p.K64N

c.192G>C

3 papers

NM_001130021.3

p.R66Splc

c.196+1G>A

1 paper

NM_001130021.3

p.I79F

c.235A>T

1 paper

NM_001130021.3

p.P89R

c.266C>G

1 paper

NM_001130021.3

p.R92delFs

c.274delC

2 papers

NM_001130021.3

p.R92W

c.274C>T

1 paper

NM_001130021.3

p.E105fs

c.313_314fs

1 paper

NM_001130021.3

p.E105delFs

c.314delA

1 paper

NM_001130021.3

p.I111V

c.331A>G