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

4 papers

NM_012463.4

p.D39_L40Splc

c.117+5G>T

Surrounding Variants

1 paper

NM_012463.4

p.D39_L40Splc

c.117+5G>A

1 paper

NM_012463.4

p.D39del1

c.115_116delGAC

2 papers

NM_012463.4

p.L34insFs

c.100_101insA

2 papers

NM_012463.4

p.S27fs

c.79_80fs

3 papers

NM_012463.4

p.L26_S27insFs

c.78_79insC

1 paper

NM_012463.4

p.C25_L26delins

c.75_76delinsCT

1 paper

NM_012463.4

p.T21M

c.62C>T

1 paper

NM_012463.4

p.Q18H

c.54G>C

1 paper

NM_012463.4

p.Q18H

c.54G>T

1 paper

NM_012463.4

p.Q14*

c.40C>T

1 paper

NM_012463.4

p.R6insFs

c.16_17dupCG

1 paper

NM_012463.4

p.F5fs

c.13_14fs