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

1 paper

NM_006019.4

p.K231delFs

c.692delA

Surrounding Variants

3 papers

NM_006019.4

p.Q230*

c.688C>T

1 paper

NM_006019.4

p.I232insFs

c.694_695insA

1 paper

NM_006019.4

p.I232fs

c.694_695fs

1 paper

NM_006019.4

p.G229*

c.685G>T

1 paper

NM_006019.4

p.Q227Q

c.681G>A

3 papers

NM_006019.4

p.K234delFs

c.702delG

1 paper

NM_006019.4

p.I235fs

c.703_704fs

1 paper

NM_006019.4

p.E226*

c.676G>T

1 paper

NM_006019.4

p.W224*

c.672G>A

2 papers

NM_006019.4

p.W224*

c.671G>A

1 paper

NM_006019.4

p.C238F

c.713G>T

1 paper

NM_006019.4

p.C238Splc

c.713+1G>A