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.I412F

c.1234A>T

Surrounding Variants

2 papers

NM_001676.7

p.I412I

c.1236C>T

1 paper

NM_001676.7

p.F413S

c.1238T>C

1 paper

NM_001676.7

p.E419V

c.1256A>T

1 paper

NM_001676.7

p.D391D

c.1173C>T

1 paper

NM_001185085.2

p.S396_D397delFs

c.1186_1189del4

1 paper

NM_001676.7

p.L382F

c.1144C>T

3 papers

NM_001676.7

p.A367_K368insFs

c.1101_1102insT

1 paper

NM_001676.7

p.L359P

c.1076T>C

3 papers

NM_001676.7

p.R431_T432insFs

c.1293_1294insG

2 papers

NM_001676.7

p.R431W

c.1291A>T

1 paper

NM_001676.7

p.R445Q

c.1334G>A

1 paper

NM_001676.7

p.E453K

c.1357G>A