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.E345delFs

c.1033delC

Surrounding Variants

1 paper

NM_000704.3

p.E345V

c.1034A>T

1 paper

NM_000704.3

p.E345A

c.1034A>C

1 paper

NM_000704.3

p.E345Q

c.1033G>C

1 paper

NM_000704.3

p.E345K

c.1033G>A

3 papers

NM_000704.3

p.P344insFs

c.1030_1031insC

3 papers

NM_000704.3

p.P344delFs

c.1030delG

2 papers

NM_000704.3

p.G346R

c.1036G>A

1 paper

NM_000704.3

p.P344R

c.1031C>G

1 paper

NM_000704.3

p.L347P

c.1040T>C

1 paper

NM_000704.3

p.A341S

c.1021G>T

1 paper

NM_000704.3

p.V351A

c.1052T>C

1 paper

NM_000704.3

p.T352_V353Splc

c.1056+1G>T