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.A349V

c.1046C>T

Surrounding Variants

1 paper

NM_006019.4

p.V348M

c.1042G>A

1 paper

NM_006019.4

p.V348fs

c.1042_1043fs

1 paper

NM_006019.4

p.S346N

c.1037G>A

1 paper

NM_006019.4

p.S346insFs

c.1036_1037ins4

2 papers

NM_006019.4

p.E342Q

c.1024G>C

3 papers

NM_006019.4

p.E342*

c.1024G>T

1 paper

NM_006019.4

p.M341fs

c.1021_1022fs

1 paper

NM_006019.4

p.S340_M341Splc

c.1021-9G>A

1 paper

NM_006019.4

p.R363C

c.1087C>T

3 papers

NM_006019.4

p.R366C

c.1096C>T

2 papers

NM_006019.4

p.R366H

c.1097G>A

1 paper

NM_006019.4

p.T368M

c.1103C>T