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.W537R

c.1609T>C

Surrounding Variants

1 paper

NM_012463.4

p.W537R

c.1609T>A

1 paper

NM_012463.4

p.A540A

c.1620C>A

1 paper

NM_012463.4

p.A540A

c.1620C>G

1 paper

NM_012463.4

p.N542D

c.1624A>G

1 paper

NM_012463.4

p.L575V

c.1723T>G

3 papers

NM_012463.4

p.L575Splc

c.1724+1G>A

2 papers

NM_012463.4

p.L575Splc

c.1724+5G>C

1 paper

NM_012463.4

p.L575Splc

c.1725-2A>G

2 papers

NM_012463.4

p.P589L

c.1766C>T

1 paper

NM_012463.4

p.C596Y

c.1787G>A

1 paper

NM_012463.4

p.K608M

c.1823A>T

1 paper

NM_012463.4

p.W609_L610insFs

c.1827_1828insG