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

3 papers

NM_012463.4

p.W822*

c.2465G>A

Surrounding Variants

3 papers

NM_012463.4

p.W822*

c.2466G>A

1 paper

NM_012463.4

p.R819C

c.2455C>T

4 papers

NM_012463.4

p.A813V

c.2438C>T

2 papers

NM_012463.4

p.L811P

c.2432T>C

1 paper

NM_012463.4

p.L805F

c.2413C>T

1 paper

NM_012463.4

p.L800F

c.2400G>C

1 paper

NM_012463.4

p.L800F

c.2400G>T

1 paper

NM_012463.4

p.A795V

c.2384C>T

2 papers

NM_012463.4

p.I794fs

c.2380_2381fs

2 papers

NM_012463.4

p.V793insFs

c.2379dupT

4 papers

NM_012463.4

p.P792R

c.2375C>G

1 paper

NM_012463.4

p.L789delFs

c.2365delC