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

6 papers

NM_005765.3

p.E56_D57Splc

c.168+6T>A

Surrounding Variants

1 paper

NM_005765.3

p.S53F

c.158C>T

2 papers

NM_005765.3

p.P43A

c.127C>G

1 paper

NM_005765.3

p.G39R

c.115G>A

1 paper

NM_005765.3

p.N32fs

c.94_95fs

1 paper

NM_005765.3

p.R31*

c.91C>T

2 papers

NM_005765.3

p.F30L

c.90C>A

2 papers

NM_005765.3

p.F30L

c.90C>G

2 papers

NM_005765.3

p.F30L

c.88T>C

2 papers

NM_005765.3

p.E18V

c.53A>T

1 paper

NM_005765.3

p.S59C

c.176C>G

2 papers

NM_005765.3

p.G62E

c.185G>A

1 paper

NM_005765.3

p.L68fs

c.202_203fs