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.R157_L158delFs

c.471_474del4

Surrounding Variants

1 paper

NM_005765.3

p.R157H

c.470G>A

1 paper

NM_005765.3

p.F159insFs

c.475_476ins4

1 paper

NM_005765.3

p.Q160*

c.478C>T

1 paper

NM_005765.3

p.Q153R

c.458A>G

3 papers

NM_005765.3

p.R152C

c.454C>T

1 paper

NM_005765.3

p.V164I

c.490G>A

1 paper

NM_005765.3

p.E145K

c.433G>A

1 paper

NM_005765.3

p.A140V

c.419C>T

1 paper

NM_005765.3

p.N177S

c.530A>G

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