Varaico: Literature-Extracted Genetic Variants

ATP4A

238 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and...

Pfam Domains

H-K_ATPase_Naa 2–43UCSCGastric H+/K+-ATPase, N terminal domain

Cation_ATPase_Naa 54–122UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 174–286UCSCP-type ATPase actuator domain

Cation_ATPaseaa 428–609UCSCP-type ATPase, cytoplasmic domain N

Hydrolase_3aa 713–772UCSChaloacid dehalogenase-like hydrolase

Cation_ATPase_Caa 810–1020UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase H+/K+ transporting subunit alpha

HGNC Alias Symbol

ATP6A

Papers

RefSeq ID

Protein change

DNA change

1–12 of 229 variants

9 papers

NM_000704.3

p.R703C

c.2107C>T

6 papers

NM_000704.3

p.P240H

c.719C>A

4 papers

NM_000704.3

p.Q680L

c.2039A>T

3 papers

NM_000704.3

p.A24insFs

c.70_71insG

3 papers

NM_000704.3

p.H55N

c.163C>A

3 papers

NM_000704.3

p.A127delFs

c.381delG

3 papers

NM_000704.3

p.P211A

c.631C>G

3 papers

NM_000704.3

p.V265A

c.794T>C

3 papers

NM_000704.3

p.R280P

c.839G>C

3 papers

NM_000704.3

p.P344insFs

c.1030_1031insC

3 papers

NM_000704.3

p.P344delFs

c.1030delG

3 papers

NM_000704.3

p.E345delFs

c.1033delC