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

2 papers

NM_006019.4

p.E435D

c.1305G>T

Surrounding Variants

1 paper

NM_006019.4

p.E435D

c.1305G>C

1 paper

NM_006019.4

p.E435_I436Splc

c.1305+1G>A

2 papers

NM_006019.4

p.E435_I436Splc

c.1305+2T>C

6 papers

NM_006019.4

p.Q433*

c.1297C>T

4 papers

NM_006019.4

p.R426*

c.1276C>T

1 paper

NM_006019.4

p.A423V

c.1268C>T

1 paper

NM_006019.4

p.A419insFs

c.1255_1256insGG

10 papers

NM_006019.4

p.A417T

c.1249G>A

5 papers

NM_006019.4

p.L415L

c.1245G>C

1 paper

NM_006019.4

p.L415_A417delins

c.1245_1249delinsCTTCA

1 paper

NM_006019.4

p.L412F

c.1234C>T

1 paper

NM_006019.4

p.E435_I436Splc

c.1306-3C>A