Varaico: Literature-Extracted Genetic Variants

TCIRG1

279 papers

RefSeq Summary

This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps ...

Pfam Domains

V_ATPase_Iaa 27–825UCSCV-type ATPase 116kDa subunit family

Gene Aliases

HGNC Name

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

HGNC Alias Symbols

TIRC7; OC-116; OC116; ATP6N1C; Atp6i; a3; ATP6V0A3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006019.4

p.L399R

c.1196T>G

Surrounding Variants

1 paper

NM_006019.4

p.F398insFs

c.1194dupC

1 paper

NM_006019.4

p.F398fs

c.1192_1193fs

2 papers

NM_006019.4

p.F396delFs

c.1188delC

1 paper

NM_006019.4

p.M403V

c.1207A>G

3 papers

NM_006019.4

p.M403I

c.1209G>A

3 papers

NM_006019.4

p.M403I

c.1209G>C

3 papers

NM_006019.4

p.M403I

c.1209G>T

1 paper

NM_006019.4

p.F404delFs

c.1210delT

16 papers

NM_006019.4

p.G405R

c.1213G>A

16 papers

NM_006019.4

p.G405R

c.1213G>C

1 paper

NM_006019.4

p.G405E

c.1214G>A

1 paper

NM_006019.4

p.D406Y

c.1216G>T