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

13 papers

NM_006019.4

p.V558Splc

c.1674-1G>A

Surrounding Variants

2 papers

NM_006019.4

p.V558Splc

c.1674-2A>G

1 paper

NM_006019.4

p.G561R

c.1681G>C

1 paper

NM_006019.4

p.G561fs

c.1681_1682fs

1 paper

NM_006019.4

p.G561Fs

c.1682delinsTTFs

1 paper

NM_006019.4

p.Q562*

c.1684C>T

1 paper

NM_006019.4

p.R565W

c.1693C>T

1 paper

NM_006019.4

p.R565Q

c.1694G>A

1 paper

NM_006019.4

p.T570M

c.1709C>T

1 paper

NM_006019.4

p.P572L

c.1715C>T

4 papers

NM_006019.4

p.G579R

c.1735G>A

4 papers

NM_006019.4

p.G579R

c.1735G>C

1 paper

NM_006019.4

p.G582S

c.1744G>A

NM_001351059.2

p.G284S

c.850G>A

NM_006053.4

p.G366S

c.1096G>A