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.G551A

c.1652G>C

Surrounding Variants

2 papers

NM_001130021.3

p.G551E

c.1652G>A

1 paper

NM_001130021.3

p.I560T

c.1679T>C

3 papers

NM_001130020.3

p.N534D

c.1600A>G

NM_001130021.3

p.N527D

c.1579A>G

1 paper

NM_001130021.3

p.V587I

c.1759G>A

1 paper

NM_001130021.3

p.F618S

c.1853T>C

1 paper

NM_001130021.3

p.M627V

c.1879A>G

1 paper

NM_001130021.3

p.M627T

c.1880T>C

1 paper

NM_001130021.3

p.K633K

c.1899A>G

1 paper

NM_001130021.3

p.V641A

c.1922T>C

1 paper

NM_001130021.3

p.L663F

c.1989G>C

1 paper

NM_001130021.3

p.L663F

c.1989G>T

1 paper

NM_001130021.3

p.G512R

c.1534G>C