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.S59C

c.176C>G

Surrounding Variants

2 papers

NM_005765.3

p.G62E

c.185G>A

1 paper

NM_005765.3

p.L68fs

c.202_203fs

5 papers

NM_005765.3

p.R71H

c.212G>A

1 paper

NM_005765.3

p.M77T

c.230T>C

1 paper

NM_005765.3

p.L86R

c.257T>G

4 papers

NM_005765.3

p.P90A

c.268C>G

1 paper

NM_005765.3

p.P90fs

c.268_269fs

1 paper

NM_005765.3

p.S92S

c.276T>C

1 paper

NM_005765.3

p.V93I

c.277G>A

7 papers

NM_005765.3

p.L98S

c.293T>C

6 papers

NM_005765.3

p.E56_D57Splc

c.168+6T>A

1 paper

NM_005765.3

p.S53F

c.158C>T