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.N226N

c.678C>T

Surrounding Variants

1 paper

NM_000704.3

p.Q220Q

c.660G>A

1 paper

NM_000704.3

p.E234Q

c.700G>C

1 paper

NM_000704.3

p.A218V

c.653C>T

1 paper

NM_000704.3

p.I216I

c.648C>T

1 paper

NM_000704.3

p.R215L

c.644G>T

1 paper

NM_000704.3

p.R238H

c.713G>A

1 paper

NM_000704.3

p.D213E

c.639C>G

1 paper

NM_000704.3

p.D213E

c.639C>A

1 paper

NM_000704.3

p.D213N

c.637G>A

6 papers

NM_000704.3

p.P240H

c.719C>A

3 papers

NM_000704.3

p.P211A

c.631C>G

1 paper

NM_000704.3

p.E245Q

c.733G>C