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.L8delFs

c.23delT

Surrounding Variants

1 paper

NM_005765.3

p.A9E

c.26C>A

1 paper

NM_005765.3

p.V3V

c.9G>A

1 paper

NM_005765.3

p.A12A

c.36G>A

2 papers

NM_005765.3

p.M1L

c.1A>C

1 paper

NM_005765.3

p.M1V

c.1A>G

1 paper

NM_005765.3

p.M1L

c.1A>T

2 papers

NM_005765.3

p.E18V

c.53A>T

2 papers

NM_005765.3

p.F30L

c.88T>C

2 papers

NM_005765.3

p.F30L

c.90C>A

2 papers

NM_005765.3

p.F30L

c.90C>G

1 paper

NM_005765.3

p.R31*

c.91C>T

1 paper

NM_005765.3

p.N32fs

c.94_95fs