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

1 paper

NM_001366521.1

p.F172L

c.516C>A

Surrounding Variants

1 paper

NM_001366521.1

p.N173D

c.517A>G

1 paper

NM_001366521.1

p.N173_D174insFs

c.519_520insA

1 paper

NM_001366521.1

p.L168I

c.502T>A

1 paper

NM_001366521.1

p.E178E

c.534A>G

1 paper

NM_001366521.1

p.Q185K

c.553C>A

2 papers

NM_001366521.1

p.W153*

c.459G>A

3 papers

NM_001366521.1

p.W153*

c.458G>A

1 paper

NM_001366521.1

p.E144*

c.430G>T

1 paper

NM_001366521.1

p.G143W

c.427G>T

1 paper

NM_001366521.1

p.A226V

c.677C>T

1 paper

NM_001366521.1

p.G228S

c.682G>A

1 paper

NM_001366521.1

p.N234N

c.702C>T