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.V481A

c.1442T>C

Surrounding Variants

2 papers

NM_001130021.3

p.S477P

c.1429T>C

1 paper

NM_001130021.3

p.I474T

c.1421T>C

1 paper

NM_001130021.3

p.M458T

c.1373T>C

1 paper

NM_001130021.3

p.G454insFs

c.1361_1362insC

1 paper

NM_001130021.3

p.R447insFs

c.1340_1341insC

1 paper

NM_001130021.3

p.T493M

c.1478C>T

2 papers

NM_001130021.3

p.R495W

c.1483C>T

3 papers

NM_001130020.3

p.A512P

c.1534G>C

NM_001130021.3

p.A505P

c.1513G>C

1 paper

NM_001130021.3

p.G512R

c.1534G>C

1 paper

NM_001130021.3

p.L418P

c.1253T>C

1 paper

NM_001130021.3

p.F403L

c.1209T>A

1 paper

NM_001130021.3

p.P400T

c.1198C>A