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.A204_L214del11

c.610_641del33

Surrounding Variants

2 papers

NM_005765.3

p.R199H

c.596G>A

1 paper

NM_005765.3

p.L214insFs

c.641_642insC

1 paper

NM_005765.3

p.L216fs

c.646_647fs

1 paper

NM_005765.3

p.K224R

c.671A>G

1 paper

NM_005765.3

p.R225H

c.674G>A

1 paper

NM_005765.3

p.A236G

c.707C>G

1 paper

NM_005765.3

p.L196_L197Splc

c.588+237G>A

2 papers

NM_005765.3

p.Q188*

c.562C>T

1 paper

NM_005765.3

p.L182fs

c.544_545fs

1 paper

NM_005765.3

p.E178_V179Splc

c.534+1006G>A

1 paper

NM_005765.3

p.D249N

c.745G>A

1 paper

NM_005765.3

p.S253C

c.757A>T