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

1–12 of 83 variants

17 papers

NM_005765.3

p.D107D

c.321C>T

10 papers

NM_005765.3

p.S115S

c.345C>T

7 papers

NM_005765.3

p.L98S

c.293T>C

6 papers

NM_005765.3

p.E56_D57Splc

c.168+6T>A

6 papers

NM_005765.3

p.A290P

c.868G>C

5 papers

NM_005765.3

p.R71H

c.212G>A

4 papers

NM_005765.3

p.P90A

c.268C>G

4 papers

NM_005765.3

p.A286A

c.858G>A

3 papers

NM_005765.3

p.R152C

c.454C>T

2 papers

NM_005765.3

p.M1L

c.1A>C

2 papers

NM_005765.3

p.E18V

c.53A>T

2 papers

NM_005765.3

p.F30L

c.88T>C