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.N192S

c.575A>G

Surrounding Variants

1 paper

NM_000704.3

p.N192_A193insG

c.574_578ins3

1 paper

NM_000704.3

p.D194N

c.580G>A

1 paper

NM_000704.3

p.A193del1

c.577_578delAGC

1 paper

NM_000704.3

p.L196M

c.586C>A

1 paper

NM_000704.3

p.K188N

c.564A>T

1 paper

NM_000704.3

p.K188N

c.564A>C

1 paper

NM_000704.3

p.K188*

c.562A>T

1 paper

NM_000704.3

p.D187N

c.559G>A

1 paper

NM_000704.3

p.D200N

c.598G>A

1 paper

NM_000704.3

p.I183T

c.548T>C

1 paper

NM_000704.3

p.E203V

c.608A>T

1 paper

NM_000704.3

p.G206D

c.617G>A