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.V611G

c.1832T>G

Surrounding Variants

1 paper

NM_012463.4

p.W609_L610insFs

c.1827_1828insG

1 paper

NM_012463.4

p.W609fs

c.1825_1826fs

1 paper

NM_012463.4

p.K608M

c.1823A>T

1 paper

NM_012463.4

p.C596Y

c.1787G>A

1 paper

NM_012463.4

p.F633I

c.1897T>A

2 papers

NM_012463.4

p.P589L

c.1766C>T

1 paper

NM_012463.4

p.G640delFs

c.1919delG

1 paper

NM_012463.4

p.L641P

c.1922T>C

3 papers

NM_012463.4

p.T643fs

c.1927_1928fs

4 papers

NM_012463.4

p.T643delFs

c.1929delA

1 paper

NM_012463.4

p.L575Splc

c.1725-2A>G

2 papers

NM_012463.4

p.L575Splc

c.1724+5G>C