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

5 papers

NM_006019.4

p.Q746Splc

c.2236+1G>A

Surrounding Variants

1 paper

NM_006019.4

p.Q746Splc

c.2236+1G>C

1 paper

NM_006019.4

p.Q746Splc

c.2236+1G>T

4 papers

NM_006019.4

p.Q746*

c.2236C>T

4 papers

NM_006019.4

p.Q746Splc

c.2236+6T>G

2 papers

NM_006019.4

p.L740fs

c.2218_2219fs

2 papers

NM_006019.4

p.L740delFs

c.2218_2219delCT

1 paper

NM_006019.4

p.A739V

c.2216C>T

1 paper

NM_006019.4

p.R736P

c.2207G>C

4 papers

NM_006019.4

p.R736S

c.2206C>A

3 papers

NM_006019.4

p.R736C

c.2206C>T

2 papers

NM_006019.4

p.S733F

c.2198C>T

1 paper

NM_006019.4

p.A732V

c.2195C>T