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.E127Q

c.379G>C

Surrounding Variants

1 paper

NM_012463.4

p.E127V

c.380A>T

1 paper

NM_012463.4

p.I126insFs

c.378dupA

1 paper

NM_012463.4

p.E127insFs

c.380_381dupAG

2 papers

NM_012463.4

p.R133insFs

c.397_398ins8

1 paper

NM_012463.4

p.H130Y

c.388C>T

1 paper

NM_012463.4

p.R133fs

c.397_398fs

2 papers

NM_012463.4

p.L118delFs

c.353_354delTG

1 paper

NM_012463.4

p.K117fs

c.349_350fs

1 paper

NM_012463.4

p.R141H

c.422G>A

2 papers

NM_012463.4

p.R141L

c.422G>T

1 paper

NM_012463.4

p.N142D

c.424A>G

3 papers

NM_012463.4

p.N142N

c.426T>C