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.F726fs

c.2176_2177fs

Surrounding Variants

1 paper

NM_012463.4

p.L744M

c.2230C>A

1 paper

NM_012463.4

p.S752P

c.2254T>C

2 papers

NM_012463.4

p.S752F

c.2255C>T

2 papers

NM_012463.4

p.W757*

c.2270G>A

2 papers

NM_012463.4

p.W757*

c.2271G>A

3 papers

NM_012463.4

p.H763Y

c.2287C>T

9 papers

NM_012463.4

p.Q765*

c.2293C>T

2 papers

NM_012463.4

p.Q765Splc

c.2293+1G>A

1 paper

NM_012463.4

p.Q765Splc

c.2293+5G>A

1 paper

NM_012463.4

p.E725fs

c.2173_2174fs

1 paper

NM_012463.4

p.E708_Q713del6

c.2122_2138del18

1 paper

NM_012463.4

p.S704I

c.2111G>T