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.S475insFs

c.1425dupA

Surrounding Variants

2 papers

NM_012463.4

p.V476fs

c.1426_1427fs

1 paper

NM_012463.4

p.K474fs

c.1420_1421fs

1 paper

NM_012463.4

p.K474_S475delFs

c.1421_1424del4

1 paper

NM_012463.4

p.K474delFs

c.1420_1421delAA

1 paper

NM_012463.4

p.F479delFs

c.1436delT

1 paper

NM_012463.4

p.F479fs

c.1435_1436fs

1 paper

NM_012463.4

p.I467T

c.1400T>C

1 paper

NM_012463.4

p.I467_D470del4

c.1399_1409del12

1 paper

NM_012463.4

p.T464S

c.1391C>G

1 paper

NM_012463.4

p.T464A

c.1390A>G

1 paper

NM_012463.4

p.T464S

c.1390A>T

1 paper

NM_012463.4

p.S491Y

c.1472C>A