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.M267R

c.800T>G

Surrounding Variants

2 papers

NM_001366521.1

p.T264I

c.791C>T

1 paper

NM_001366521.1

p.S270S

c.810T>A

1 paper

NM_001366521.1

p.G263Splc

c.788-27A>G

1 paper

NM_001366521.1

p.I287T

c.860T>C

1 paper

NM_001366521.1

p.L290S

c.869T>C

1 paper

NM_001366521.1

p.E298D

c.894A>T

1 paper

NM_001366521.1

p.E298D

c.894A>C

1 paper

NM_001366521.1

p.D302H

c.904G>C

1 paper

NM_001366521.1

p.K304*

c.910A>T

1 paper

NM_001366521.1

p.M331I

c.993G>T

1 paper

NM_001366521.1

p.M331I

c.993G>C

1 paper

NM_001366521.1

p.M331I

c.993G>A