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.I282L

c.844A>C

Surrounding Variants

1 paper

NM_001676.7

p.I282S

c.845T>G

1 paper

NM_001676.7

p.R279S

c.835C>A

1 paper

NM_001676.7

p.R279C

c.835C>T

1 paper

NM_001676.7

p.G277S

c.829G>A

1 paper

NM_001676.7

p.N275N

c.825C>T

2 papers

NM_001676.7

p.I274T

c.821T>C

1 paper

NM_001676.7

p.V273A

c.818T>C

1 paper

NM_001676.7

p.V269A

c.806T>C

1 paper

NM_001676.7

p.K296E

c.886A>G

1 paper

NM_001676.7

p.G267Splc

c.800-1G>C

1 paper

NM_001676.7

p.I299V

c.895A>G

1 paper

NM_001676.7

p.I309F

c.925A>T