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.E722K

c.2164G>A

Surrounding Variants

1 paper

NM_006019.4

p.E722D

c.2166G>C

1 paper

NM_006019.4

p.E722D

c.2166G>T

4 papers

NM_006019.4

p.I721N

c.2162T>A

1 paper

NM_006019.4

p.I721del1

c.2161_2162delATC

1 paper

NM_006019.4

p.T720_G726delFs

c.2160_2178del19

1 paper

NM_006019.4

p.A717D

c.2150C>A

1 paper

NM_006019.4

p.A717T

c.2149G>A

2 papers

NM_006019.4

p.C727*

c.2181C>A

1 paper

NM_006019.4

p.V728I

c.2182G>A

1 paper

NM_006019.4

p.S729F

c.2186C>T

1 paper

NM_006019.4

p.N730S

c.2189A>G

1 paper

NM_006019.4

p.N730I

c.2189A>T