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.Q1020_I1021Splc

c.3060+2T>G

Surrounding Variants

1 paper

NM_001366521.1

p.F1009V

c.3025T>G

1 paper

NM_001366521.1

p.E996*

c.2986G>T

1 paper

NM_001366521.1

p.G995C

c.2983G>T

3 papers

NM_001366521.1

p.R991Q

c.2972G>A

2 papers

NM_001366521.1

p.V980L

c.2938G>T

2 papers

NM_001366521.1

p.V980L

c.2938G>C

1 paper

NM_001366521.1

p.I974V

c.2920A>G

1 paper

NM_001366521.1

p.E951fs

c.2851_2852fs

1 paper

NM_001366521.1

p.G950fs

c.2848_2849fs

2 papers

NM_001366521.1

p.D895N

c.2683G>A

1 paper

NM_001366521.1

p.L882I

c.2644C>A

1 paper

NM_001366521.1

p.Q878_D879Splc

c.2635-2A>G