Varaico: Literature-Extracted Genetic Variants

ATP2B2

186 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 48–118UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 187–290UCSCP-type ATPase actuator domain

Cation_ATPaseaa 488–667UCSCP-type ATPase, cytoplasmic domain N

Hydrolase_3aa 745–820UCSChaloacid dehalogenase-like hydrolase

Cation_ATPase_Caa 857–1039UCSCCation transporting ATPase, C-terminus

ATP_Ca_trans_Caa 1081–1143UCSCPlasma membrane calcium transporter ATPase C terminal

Gene Aliases

HGNC Name

ATPase plasma membrane Ca2+ transporting 2

HGNC Alias Symbol

PMCA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001001331.4

p.S18L

c.53C>T

Surrounding Variants

1 paper

NM_001001331.4

p.K12delFs

c.34delT

1 paper

NM_001001331.4

p.N13Y

c.37A>T

1 paper

NM_001001331.4

p.F24L

c.72C>A

1 paper

NM_001001331.4

p.D8N

c.22G>A

1 paper

NM_001001331.4

p.N6I

c.17A>T

1 paper

NM_001001331.4

p.M4V

c.10A>G

1 paper

NM_001001331.4

p.G2D

c.5G>A

1 paper

NM_001001331.4

p.M1insFs

c.2_3insT

1 paper

NM_001001331.4

p.M1insFs

c.1_2insT

1 paper

NM_001001331.4

p.Y50Y

c.150T>C

1 paper

NM_001001331.4

p.T53T

c.159C>T

1 paper

NM_001001331.4

p.R58R

c.172C>A