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

Selected Variant

1 paper

NM_000704.3

p.T272K

c.815C>A

Surrounding Variants

1 paper

NM_000704.3

p.N271N

c.813C>T

1 paper

NM_000704.3

p.V270E

c.809T>A

1 paper

NM_000704.3

p.D274E

c.822C>G

1 paper

NM_000704.3

p.R275H

c.824G>A

1 paper

NM_000704.3

p.L268L

c.802C>T

3 papers

NM_000704.3

p.V265A

c.794T>C

3 papers

NM_000704.3

p.R280P

c.839G>C

1 paper

NM_000704.3

p.E291K

c.871G>A

1 paper

NM_000704.3

p.I299V

c.895A>G

1 paper

NM_000704.3

p.I305T

c.914T>C

1 paper

NM_000704.3

p.A307V

c.920C>T

1 paper

NM_000704.3

p.A310S

c.928G>T