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.L407F

c.1221A>T

Surrounding Variants

1 paper

NM_012463.4

p.L407F

c.1221A>C

5 papers

NM_012463.4

p.P405L

c.1214C>T

1 paper

NM_012463.4

p.V410delFs

c.1229delT

5 papers

NM_012463.4

p.G416R

c.1246G>A

5 papers

NM_012463.4

p.G416R

c.1246G>C

2 papers

NM_012463.4

p.H417Y

c.1249C>T

1 paper

NM_012463.4

p.V420L

c.1258G>C

1 paper

NM_012463.4

p.V420L

c.1258G>T

2 papers

NM_012463.4

p.L426F

c.1276C>T

1 paper

NM_012463.4

p.L430_E432del3

c.1288_1295del9

1 paper

NM_012463.4

p.E432fs

c.1294_1295fs

2 papers

NM_012463.4

p.N433delFs

c.1298delA