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

1–12 of 121 variants

4 papers

NM_001366521.1

p.Q878*

c.2632C>T

3 papers

NM_001366521.1

p.W153*

c.458G>A

3 papers

NM_001366521.1

p.M267R

c.800T>G

3 papers

NM_001366521.1

p.H459R

c.1376A>G

3 papers

NM_001366521.1

p.R597*

c.1789C>T

3 papers

NM_001366521.1

p.R991Q

c.2972G>A

3 papers

NM_001366521.1

p.Q1020_I1021Splc

c.3060+2T>G

2 papers

NM_001366521.1

p.W103C

c.309G>C

2 papers

NM_001366521.1

p.W153*

c.459G>A

2 papers

NM_001366521.1

p.D239G

c.716A>G

2 papers

NM_001366521.1

p.T264I

c.791C>T

2 papers

NM_001366521.1

p.T425K

c.1274C>A