Varaico: Literature-Extracted Genetic Variants

ATP6AP2

116 papers

RefSeq Summary

This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidifi...

Pfam Domains

RENR_Naa 15–268UCSCRenin receptor N-terminal domain

Renin_raa 275–350UCSCRenin receptor-like transmembrane spanning segment

Gene Aliases

HGNC Name

ATPase H+ transporting accessory protein 2

HGNC Previous Symbol

ATP6IP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005765.3

p.W312*

c.936G>A

Surrounding Variants

1 paper

NM_005765.3

p.W312C

c.936G>C

1 paper

NM_005765.3

p.W312C

c.936G>T

1 paper

NM_005765.3

p.I313fs

c.937_938fs

1 paper

NM_005765.3

p.W312*

c.935G>A

1 paper

NM_005765.3

p.W312delins

c.935_936delinsAA

1 paper

NM_005765.3

p.N308S

c.923A>G

2 papers

NM_005765.3

p.N308H

c.922A>C

1 paper

NM_005765.3

p.A318D

c.953C>A

1 paper

NM_005765.3

p.L319V

c.955T>G

1 paper

NM_005765.3

p.P333H

c.998C>A

6 papers

NM_005765.3

p.A290P

c.868G>C

1 paper

NM_005765.3

p.A286_K287Splc

c.859-2A>C