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

1–12 of 208 variants

7 papers

NM_001676.7

p.R227R

c.681G>A

3 papers

NM_001676.7

p.K24insFs

c.70_71insG

3 papers

NM_001676.7

p.G25A

c.74G>C

3 papers

NM_001676.7

p.H55N

c.163C>A

3 papers

NM_001676.7

p.P241delFs

c.723delC

3 papers

NM_001676.7

p.S243S

c.729C>T

3 papers

NM_001676.7

p.T263M

c.788C>T

3 papers

NM_001676.7

p.V344insFs

c.1030_1031insC

3 papers

NM_001676.7

p.A345delFs

c.1033delG

3 papers

NM_001676.7

p.A367_K368insFs

c.1101_1102insT

3 papers

NM_001676.7

p.R431_T432insFs

c.1293_1294insG

3 papers

NM_001676.7

p.G480C

c.1438G>T