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.V631delFs

c.1891delG

Surrounding Variants

1 paper

NM_006019.4

p.Q633*

c.1897C>T

1 paper

NM_006019.4

p.L648L

c.1942C>T

1 paper

NM_006019.4

p.L653R

c.1958T>G

1 paper

NM_006019.4

p.R658C

c.1972C>T

1 paper

NM_006019.4

p.R660C

c.1978C>T

9 papers

NM_006019.4

p.R670*

c.2008C>T

1 paper

NM_006019.4

p.Q671_E672Splc

c.2013+2T>G

3 papers

NM_006019.4

p.Q629_E630Splc

c.1887+149C>T

5 papers

NM_006019.4

p.Q629_E630Splc

c.1887+146G>A

5 papers

NM_006019.4

p.Q629_E630Splc

c.1887+142T>A

3 papers

NM_006019.4

p.Q629_E630Splc

c.1887+132T>C

1 paper

NM_006019.4

p.Q671_E672Splc

c.2014-8T>C