Varaico: Literature-Extracted Genetic Variants

ATP12A

299 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of...

Pfam Domains

Cation_ATPase_Naa 58–126UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 178–290UCSCP-type ATPase actuator domain

Cation_ATPaseaa 432–613UCSCP-type ATPase, cytoplasmic domain N

Hydrolase_3aa 714–776UCSChaloacid dehalogenase-like hydrolase

Cation_ATPase_Caa 814–1024UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase H+/K+ transporting non-gastric alpha2 subunit

HGNC Previous Symbol

ATP1AL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001676.7

p.R188Q

c.563G>A

Surrounding Variants

1 paper

NM_001676.7

p.V186V

c.558C>A

1 paper

NM_001676.7

p.V186I

c.556G>A

1 paper

NM_001676.7

p.K193del1

c.577_578delAAG

1 paper

NM_001676.7

p.E191A

c.572A>C

1 paper

NM_001676.7

p.L185F

c.553C>T

1 paper

NM_001676.7

p.K192_K193insG

c.574_578ins3

1 paper

NM_001676.7

p.K192R

c.575A>G

2 papers

NM_001676.7

p.P196S

c.586C>T

1 paper

NM_001676.7

p.P196H

c.587C>A

2 papers

NM_001676.7

p.L200R

c.599T>G

1 paper

NM_001676.7

p.V206E

c.617T>A

1 paper

NM_001676.7

p.V208L

c.622G>C