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

1–12 of 264 variants

9 papers

NM_012463.4

p.R63*

c.187C>T

9 papers

NM_012463.4

p.Q765*

c.2293C>T

5 papers

NM_012463.4

p.P405L

c.1214C>T

5 papers

NM_012463.4

p.G416R

c.1246G>A

5 papers

NM_012463.4

p.G416R

c.1246G>C

5 papers

NM_012463.4

p.E442*

c.1324G>T

5 papers

NM_012463.4

p.N505Splc

c.1514+1G>A

4 papers

NM_012463.4

p.D39_L40Splc

c.117+5G>T

4 papers

NM_012463.4

p.E442_I443Splc

c.1326+1G>A

4 papers

NM_012463.4

p.T643delFs

c.1929delA

4 papers

NM_012463.4

p.P792R

c.2375C>G

4 papers

NM_012463.4

p.A813V

c.2438C>T