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.W476*

c.1427G>A

Surrounding Variants

1 paper

NM_006019.4

p.W476*

c.1428G>A

1 paper

NM_006019.4

p.V478_N483Fs

c.1432_1449delinsTFs

2 papers

NM_006019.4

p.S474*

c.1421C>A

1 paper

NM_006019.4

p.S474W

c.1421C>G

1 paper

NM_006019.4

p.S474_G475insG

c.1420_1424ins3

2 papers

NM_006019.4

p.A480_M481insG

c.1438_1442ins3

1 paper

NM_006019.4

p.R467H

c.1400G>A

1 paper

NM_006019.4

p.F465fs

c.1393_1394fs

1 paper

NM_006019.4

p.S488R

c.1462A>C

2 papers

NM_006019.4

p.C464*

c.1392C>A

1 paper

NM_006019.4

p.C464delFs

c.1392delC

1 paper

NM_006019.4

p.F465_R467delFs

c.1393_1399del7