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.I19insFs

c.56_57insC

Surrounding Variants

1 paper

NM_001676.7

p.I19L

c.55A>C

1 paper

NM_001676.7

p.D18G

c.53A>G

2 papers

NM_001676.7

p.D18V

c.53A>T

1 paper

NM_001676.7

p.V20A

c.59T>C

2 papers

NM_001676.7

p.D23insFs

c.67_68insG

3 papers

NM_001676.7

p.K24insFs

c.70_71insG

3 papers

NM_001676.7

p.G25A

c.74G>C

1 paper

NM_001676.7

p.P6L

c.17C>T

1 paper

NM_001676.7

p.L34L

c.100C>T

1 paper

NM_001676.7

p.L34P

c.101T>C

1 paper

NM_001676.7

p.K35Q

c.103A>C

1 paper

NM_001676.7

p.K47_E48insFs

c.141_142insC