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.G410G

c.1230G>A

Surrounding Variants

5 papers

NM_006019.4

p.G410R

c.1228G>A

NM_001351059.2

p.G112R

c.334G>A

5 papers

NM_006019.4

p.G410R

c.1228G>C

NM_001351059.2

p.G112R

c.334G>C

1 paper

NM_006019.4

p.G410W

c.1228G>T

1 paper

NM_006019.4

p.G410delFs

c.1230delG

1 paper

NM_006019.4

p.L412F

c.1234C>T

1 paper

NM_006019.4

p.D406Y

c.1216G>T

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.G405E

c.1214G>A

16 papers

NM_006019.4

p.G405R

c.1213G>A

16 papers

NM_006019.4

p.G405R

c.1213G>C

10 papers

NM_006019.4

p.A417T

c.1249G>A