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

11 papers

NM_006019.4

p.R444L

c.1331G>T

Surrounding Variants

1 paper

NM_006019.4

p.R442K

c.1325G>A

1 paper

NM_006019.4

p.G443delFs

c.1328delG

1 paper

NM_006019.4

p.M450_F459insFs

c.1348_1376dup29

1 paper

NM_006019.4

p.M450R

c.1349T>G

1 paper

NM_006019.4

p.E435_I436Splc

c.1306-2A>G

1 paper

NM_006019.4

p.E435_I436Splc

c.1306-3C>A

4 papers

NM_006019.4

p.T457delFs

c.1371delC

1 paper

NM_006019.4

p.T457T

c.1371C>A

8 papers

NM_006019.4

p.G458S

c.1372G>A

1 paper

NM_006019.4

p.G458fs

c.1372_1373fs

1 paper

NM_006019.4

p.G458A

c.1373G>C

1 paper

NM_006019.4

p.F459fs

c.1375_1376fs