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

3 papers

NM_001676.7

p.V344insFs

c.1030_1031insC

Surrounding Variants

3 papers

NM_001676.7

p.A345delFs

c.1033delG

1 paper

NM_001676.7

p.L339H

c.1016T>A

1 paper

NM_001676.7

p.S335_I336insG

c.1003_1007ins3

1 paper

NM_001676.7

p.D334Y

c.1000G>T

1 paper

NM_001676.7

p.Q331*

c.991C>T

1 paper

NM_001676.7

p.K329E

c.985A>G

1 paper

NM_001676.7

p.F322L

c.966C>A

1 paper

NM_001676.7

p.F322L

c.966C>G

1 paper

NM_001676.7

p.F322L

c.964T>C

1 paper

NM_001676.7

p.I319S

c.956T>G

1 paper

NM_001676.7

p.A314V

c.941C>T

1 paper

NM_001676.7

p.G312A

c.935G>C