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.S105R

c.313A>C

Surrounding Variants

1 paper

NM_005765.3

p.S105R

c.315T>A

1 paper

NM_005765.3

p.S105R

c.315T>G

2 papers

NM_005765.3

p.D107fs

c.319_320fs

17 papers

NM_005765.3

p.D107D

c.321C>T

10 papers

NM_005765.3

p.S115S

c.345C>T

2 papers

NM_005765.3

p.E119Q

c.355G>C

1 paper

NM_005765.3

p.E119E

c.357G>A

1 paper

NM_005765.3

p.M136I

c.408G>A

1 paper

NM_005765.3

p.M136I

c.408G>C

1 paper

NM_005765.3

p.M136I

c.408G>T

1 paper

NM_005765.3

p.A140V

c.419C>T

1 paper

NM_005765.3

p.E145K

c.433G>A