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.M299T

c.896T>C

Surrounding Variants

1 paper

NM_006019.4

p.V296_H297insC

c.886_890ins3

4 papers

NM_006019.4

p.Y303*

c.909C>A

4 papers

NM_006019.4

p.Y303*

c.909C>G

3 papers

NM_006019.4

p.Q295*

c.883C>T

1 paper

NM_006019.4

p.A305V

c.914C>T

1 paper

NM_006019.4

p.Q308delFs

c.922delC

1 paper

NM_006019.4

p.P290L

c.869C>T

2 papers

NM_006019.4

p.L286L

c.856C>T

2 papers

NM_006019.4

p.V285fs

c.853_854fs

1 paper

NM_006019.4

p.V285delFs

c.854_855delTG

1 paper

NM_006019.4

p.T314M

c.941C>T

1 paper

NM_006019.4

p.L318L

c.954C>A