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

6 papers

NM_001130021.3

p.R740Q

c.2219G>A

NM_001130020.3

p.R741Q

c.2222G>A

Surrounding Variants

1 paper

NM_001130021.3

p.R740L

c.2219G>T

1 paper

NM_001130021.3

p.I732N

c.2195T>A

1 paper

NM_001130021.3

p.D712D

c.2136C>T

1 paper

NM_001130021.3

p.L800Fs

c.2400delinsCTFs

2 papers

NM_001130021.3

p.H801Y

c.2401C>T

2 papers

NM_001130021.3

p.R804H

c.2411G>A

2 papers

NM_001130021.3

p.T697A

c.2089A>G

1 paper

NM_001130021.3

p.E688K

c.2062G>A

1 paper

NM_001130021.3

p.P682_E685delFs

c.2044_2053del10

1 paper

NM_001130021.3

p.G681R

c.2041G>A

1 paper

NM_001130021.3

p.G681R

c.2041G>C

1 paper

NM_001130021.3

p.G675R

c.2023G>A