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.A331S

c.991G>T

Surrounding Variants

4 papers

NM_006053.4

p.R111*

c.331C>T

NM_006019.4

p.R327*

c.979C>T

1 paper

NM_006019.4

p.L336delFs

c.1007delT

2 papers

NM_006019.4

p.L336fs

c.1006_1007fs

1 paper

NM_006019.4

p.L336_D338delFs

c.1007_1013del7

1 paper

NM_006019.4

p.S325delFs

c.974delC

4 papers

NM_006019.4

p.C324insFs

c.971dupG

2 papers

NM_006019.4

p.C324fs

c.970_971fs

4 papers

NM_006019.4

p.C324fs

c.970_971fs

1 paper

NM_006019.4

p.W323*

c.969G>A

1 paper

NM_006019.4

p.W323*

c.968G>A

1 paper

NM_006019.4

p.S339R

c.1015A>C

1 paper

NM_006019.4

p.S339C

c.1015A>T