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.E269_V270Splc

c.807+5G>C

Surrounding Variants

7 papers

NM_006019.4

p.E269_V270Splc

c.807+5G>A

1 paper

NM_006019.4

p.E269_V270Splc

c.807+2T>G

2 papers

NM_006019.4

p.E266*

c.796G>T

1 paper

NM_006019.4

p.E266delFs

c.797delA

1 paper

NM_006019.4

p.Q261delFs

c.783delA

1 paper

NM_006019.4

p.R253H

c.758G>A

2 papers

NM_006019.4

p.H242R

c.725A>G

1 paper

NM_006019.4

p.C238Splc

c.714-19C>A

1 paper

NM_006019.4

p.C238Splc

c.714-20G>A

1 paper

NM_006019.4

p.L271fs

c.811_812fs

1 paper

NM_006019.4

p.C238Splc

c.713+18C>T

1 paper

NM_006019.4

p.F277fs

c.829_830fs