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

2 papers

NM_006019.4

p.G677V

c.2030G>T

Surrounding Variants

1 paper

NM_006019.4

p.L679P

c.2036T>C

1 paper

NM_006019.4

p.Q671_E672Splc

c.2014-1G>A

1 paper

NM_006019.4

p.Q671_E672Splc

c.2014-8T>C

1 paper

NM_006019.4

p.D692N

c.2074G>A

1 paper

NM_006019.4

p.D692Y

c.2074G>T

1 paper

NM_001351059.2

p.A398insFs

c.1194dupA

1 paper

NM_006019.4

p.E704_A705delFs

c.2111_2115del5

1 paper

NM_006019.4

p.E706_L707Splc

c.2118+2T>A

1 paper

NM_006019.4

p.E706_L707Splc

c.2118+5G>A

1 paper

NM_006019.4

p.Q671_E672Splc

c.2013+2T>G

1 paper

NM_006019.4

p.A717T

c.2149G>A

1 paper

NM_006019.4

p.A717D

c.2150C>A