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.R628Q

c.1883G>A

Surrounding Variants

2 papers

NM_006019.4

p.R628W

c.1882C>T

1 paper

NM_006019.4

p.Q629*

c.1885C>T

5 papers

NM_006019.4

p.Q629_E630Splc

c.1887+1G>A

1 paper

NM_006019.4

p.Y626S

c.1877A>C

1 paper

NM_006019.4

p.L625L

c.1875C>A

1 paper

NM_006019.4

p.P620T

c.1858C>A

1 paper

NM_006019.4

p.F610S

c.1829T>C

1 paper

NM_006019.4

p.A603_I606delFs

c.1809_1818del10

1 paper

NM_006019.4

p.A601T

c.1801G>A

3 papers

NM_006019.4

p.W596*

c.1788G>A

3 papers

NM_006019.4

p.W596*

c.1787G>A

2 papers

NM_006019.4

p.L593delFs

c.1778_1779delTG