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.L79fs

c.235_236fs

Surrounding Variants

2 papers

NM_012463.4

p.P78_L79insC

c.232_236ins3

1 paper

NM_012463.4

p.L79delFs

c.235delC

1 paper

NM_012463.4

p.D76insFs

c.226_227insA

1 paper

NM_012463.4

p.G82E

c.245G>A

1 paper

NM_012463.4

p.N73K

c.219T>A

1 paper

NM_012463.4

p.I72I

c.216T>A

3 papers

NM_012463.4

p.P87L

c.260C>T

1 paper

NM_012463.4

p.L95Q

c.284T>A

1 paper

NM_012463.4

p.Q98H

c.294G>C

1 paper

NM_012463.4

p.Q98H

c.294G>T

3 papers

NM_012463.4

p.Q98_E99Splc

c.294+1G>A

2 papers

NM_012463.4

p.Q100_L101insA

c.298_302ins3