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.V52L

c.154G>T

Surrounding Variants

5 papers

NM_006019.4

p.V52L

c.154G>C

1 paper

NM_006019.4

p.F51Y

c.152T>A

1 paper

NM_006019.4

p.F51S

c.152T>C

1 paper

NM_006019.4

p.F51C

c.152T>G

1 paper

NM_006019.4

p.V53I

c.157G>A

1 paper

NM_006019.4

p.R50C

c.148C>T

13 papers

NM_006019.4

p.R56W

c.166C>T

1 paper

NM_006019.4

p.R56P

c.167G>C

1 paper

NM_006019.4

p.F47C

c.140T>G

1 paper

NM_006019.4

p.R57H

c.170G>A

1 paper

NM_006019.4

p.L40F

c.118C>T

2 papers

NM_006019.4

p.D39_L40Splc

c.118-1G>A