Varaico: Literature-Extracted Genetic Variants

ATP6V0A2

177 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, a...

Pfam Domains

V_ATPase_Iaa 27–842UCSCV-type ATPase 116kDa subunit family

Gene Aliases

HGNC Name

ATPase H+ transporting V0 subunit a2

HGNC Alias Symbols

TJ6; a2; TJ6s; TJ6M; ATP6a2; J6B7; ATP6N1D; Vph1; Stv1; a2V

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012463.4

p.R685_S686Splc

c.2055+4A>G

Surrounding Variants

1 paper

NM_012463.4

p.R685Q

c.2054G>A

2 papers

NM_012463.4

p.R685W

c.2053C>T

1 paper

NM_012463.4

p.G682R

c.2044G>A

1 paper

NM_012463.4

p.G682R

c.2044G>C

1 paper

NM_012463.4

p.C680*

c.2040C>A

1 paper

NM_012463.4

p.R678H

c.2033G>A

1 paper

NM_012463.4

p.R678C

c.2032C>T

3 papers

NM_012463.4

p.L672*

c.2015T>A

1 paper

NM_012463.4

p.L672L

c.2014T>C

2 papers

NM_012463.4

p.L669V

c.2005C>G

1 paper

NM_012463.4

p.S659C

c.1976C>G

2 papers

NM_012463.4

p.L658_S659delFs

c.1973_1976del4