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

1–12 of 99 variants

4 papers

NM_001130021.3

p.R740Q

c.2219G>A

3 papers

NM_001130021.3

p.R66Splc

c.196+1G>A

3 papers

NM_001130020.3

p.R741Q

c.2222G>A

2 papers

NM_001130021.3

p.R92W

c.274C>T

2 papers

NM_001130021.3

p.E149delFs

c.445delG

2 papers

NM_001130021.3

p.E149fs

c.445_446fs

2 papers

NM_001130021.3

p.S477P

c.1429T>C

2 papers

NM_001130021.3

p.R495W

c.1483C>T

2 papers

NM_001130021.3

p.A505P

c.1513G>C

2 papers

NM_001130021.3

p.N527D

c.1579A>G

2 papers

NM_001130021.3

p.G551E

c.1652G>A

2 papers

NM_001130021.3

p.T697A

c.2089A>G