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

3 papers

NM_000704.3

p.A127delFs

c.381delG

Surrounding Variants

1 paper

NM_000704.3

p.A127S

c.379G>T

1 paper

NM_000704.3

p.A130G

c.389C>G

1 paper

NM_000704.3

p.A125G

c.374C>G

1 paper

NM_000704.3

p.L123F

c.367C>T

1 paper

NM_000704.3

p.D139G

c.416A>G

1 paper

NM_000704.3

p.Q112R

c.335A>G

1 paper

NM_000704.3

p.A104A

c.312G>A

1 paper

NM_000704.3

p.F103F

c.309C>T

1 paper

NM_000704.3

p.E99E

c.297G>A

1 paper

NM_000704.3

p.G96fs

c.286_287fs

1 paper

NM_000704.3

p.G96delFs

c.287delC

1 paper

NM_000704.3

p.R95W

c.283C>T