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.E688D

c.2064A>T

Surrounding Variants

1 paper

NM_000704.3

p.E688D

c.2064A>C

1 paper

NM_000704.3

p.V690V

c.2070C>T

1 paper

NM_000704.3

p.E691Q

c.2071G>C

1 paper

NM_000704.3

p.E691K

c.2071G>A

2 papers

NM_000704.3

p.R694C

c.2080C>T

4 papers

NM_000704.3

p.Q680L

c.2039A>T

1 paper

NM_000704.3

p.M699T

c.2096T>C

1 paper

NM_000704.3

p.A702E

c.2105C>A

9 papers

NM_000704.3

p.R703C

c.2107C>T

1 paper

NM_000704.3

p.Q707*

c.2119C>T

1 paper

NM_000704.3

p.Q708P

c.2123A>C

1 paper

NM_000704.3

p.V713M

c.2137G>A