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.I195T

c.584T>C

Surrounding Variants

2 papers

NM_006019.4

p.G192S

c.574G>A

1 paper

NM_006019.4

p.G192C

c.574G>T

1 paper

NM_006019.4

p.R191H

c.572G>A

1 paper

NM_006019.4

p.E202Q

c.604G>C

1 paper

NM_006019.4

p.Q203*

c.607C>T

2 papers

NM_006019.4

p.W187*

c.561G>A

2 papers

NM_006019.4

p.R184H

c.551G>A

1 paper

NM_006019.4

p.L185delFs

c.553delC

1 paper

NM_006019.4

p.R184C

c.550C>T

1 paper

NM_006019.4

p.P208delFs

c.624delC

2 papers

NM_006019.4

p.T210M

c.629C>T

1 paper

NM_006019.4

p.P180L

c.539C>T