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

1–12 of 436 variants

16 papers

NM_006019.4

p.G405R

c.1213G>A

16 papers

NM_006019.4

p.G405R

c.1213G>C

13 papers

NM_006019.4

p.R56W

c.166C>T

13 papers

NM_006019.4

p.V558Splc

c.1674-1G>A

11 papers

NM_006019.4

p.R444L

c.1331G>T

10 papers

NM_006019.4

p.A417T

c.1249G>A

9 papers

NM_006019.4

p.D39_L40Splc

c.117+4A>T

9 papers

NM_006019.4

p.R670*

c.2008C>T

8 papers

NM_006019.4

p.G458S

c.1372G>A

7 papers

NM_006019.4

p.E269_V270Splc

c.807+5G>A

7 papers

NM_006019.4

p.Q372*

c.1114C>T

6 papers

NM_006019.4

p.N168Splc

c.504-6C>A