Varaico: Literature-Extracted Genetic Variants

ATP2B1

108 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enz...

Pfam Domains

Cation_ATPase_Naa 51–121UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 189–292UCSCP-type ATPase actuator domain

Cation_ATPaseaa 514–689UCSCP-type ATPase, cytoplasmic domain N

Hydrolase_3aa 766–842UCSChaloacid dehalogenase-like hydrolase

Cation_ATPase_Caa 879–1061UCSCCation transporting ATPase, C-terminus

ATP_Ca_trans_Caa 1103–1149UCSCPlasma membrane calcium transporter ATPase C terminal

Gene Aliases

HGNC Name

ATPase plasma membrane Ca2+ transporting 1

HGNC Alias Symbol

PMCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001366521.1

p.H459R

c.1376A>G

Surrounding Variants

1 paper

NM_001366521.1

p.R539H

c.1616G>A

1 paper

NM_001366521.1

p.L550*

c.1649T>A

1 paper

NM_001366521.1

p.L554F

c.1662G>T

1 paper

NM_001366521.1

p.L554F

c.1662G>C

1 paper

NM_001366521.1

p.V575delFs

c.1723delC

1 paper

NM_001366521.1

p.V588I

c.1762G>A

3 papers

NM_001366521.1

p.R597*

c.1789C>T

1 paper

NM_001366521.1

p.S442S

c.1326A>G

2 papers

NM_001366521.1

p.T425K

c.1274C>A

1 paper

NM_001366521.1

p.E407E

c.1221G>A

1 paper

NM_001366521.1

p.E407K

c.1219G>A

1 paper

NM_001366521.1

p.K356N

c.1068A>T