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.N505N

c.1515T>C

Surrounding Variants

2 papers

NM_012463.4

p.R510I

c.1529G>T

1 paper

NM_012463.4

p.S520_I521insFs

c.1560_1561ins8

1 paper

NM_012463.4

p.I521delFs

c.1562delT

3 papers

NM_012463.4

p.I521fs

c.1561_1562fs

1 paper

NM_012463.4

p.P522fs

c.1564_1565fs

1 paper

NM_012463.4

p.R526*

c.1576C>T

1 paper

NM_012463.4

p.Y529delFs

c.1587delT

1 paper

NM_012463.4

p.P530P

c.1590C>T

1 paper

NM_012463.4

p.G532delFs

c.1595delG

3 papers

NM_012463.4

p.P535_I536Splc

c.1605+1G>A

1 paper

NM_012463.4

p.N505Splc

c.1514+3A>T

5 papers

NM_012463.4

p.N505Splc

c.1514+1G>A