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.E698D

c.2094A>C

Surrounding Variants

1 paper

NM_012463.4

p.E698D

c.2094A>T

1 paper

NM_012463.4

p.L701W

c.2102T>G

1 paper

NM_012463.4

p.S695N

c.2084G>A

2 papers

NM_012463.4

p.S695fs

c.2083_2084fs

3 papers

NM_012463.4

p.S695_E696delFs

c.2085_2088del4

1 paper

NM_012463.4

p.S704I

c.2111G>T

1 paper

NM_012463.4

p.E708_Q713del6

c.2122_2138del18

1 paper

NM_012463.4

p.Y688*

c.2064C>A

1 paper

NM_012463.4

p.Y688*

c.2064C>G

1 paper

NM_012463.4

p.R685_S686Splc

c.2056-1G>T

1 paper

NM_012463.4

p.E725fs

c.2173_2174fs

1 paper

NM_012463.4

p.R685_S686Splc

c.2055+4A>G