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.P241delFs

c.723delC

Surrounding Variants

1 paper

NM_001676.7

p.E238K

c.712G>A

3 papers

NM_001676.7

p.S243S

c.729C>T

1 paper

NM_001676.7

p.S237A

c.709T>G

1 paper

NM_001676.7

p.E245Q

c.733G>C

1 paper

NM_001676.7

p.E236delFs

c.706delG

1 paper

NM_001676.7

p.S232S

c.696T>G

2 papers

NM_001676.7

p.N250T

c.749A>C

1 paper

NM_001676.7

p.N230S

c.689A>G

1 paper

NM_001676.7

p.T262P

c.784A>C

1 paper

NM_001676.7

p.T263A

c.787A>G

3 papers

NM_001676.7

p.T263M

c.788C>T

1 paper

NM_001676.7

p.G267Splc

c.799+1G>T