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

1 paper

NM_001001331.4

p.L561L

c.1681C>T

Surrounding Variants

1 paper

NM_001001331.4

p.L561M

c.1681C>A

1 paper

NM_001001331.4

p.A560T

c.1678G>A

1 paper

NM_001001331.4

p.P554L

c.1661C>T

1 paper

NM_001001331.4

p.T569M

c.1706C>T

1 paper

NM_001001331.4

p.G572G

c.1716C>T

1 paper

NM_001001331.4

p.F576I

c.1726T>A

1 paper

NM_001001331.4

p.R588C

c.1762C>T

1 paper

NM_001001331.4

p.E593Q

c.1777G>C

1 paper

NM_001001331.4

p.L596fs

c.1786_1787fs

1 paper

NM_001001331.4

p.L596delFs

c.1787delA

1 paper

NM_001001331.4

p.R606H

c.1817G>A

3 papers

NM_001001331.4

p.E629K

c.1885G>A

NM_001683.5

p.E584K

c.1750G>A