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

7 papers

NM_001683.5

p.V474I

c.1420G>A

NM_001001331.4

p.V519I

c.1555G>A

Surrounding Variants

1 paper

NM_001001331.4

p.H520L

c.1559A>T

1 paper

NM_001001331.4

p.A514D

c.1541C>A

1 paper

NM_001001331.4

p.D526D

c.1578C>T

1 paper

NM_001001331.4

p.P527T

c.1579C>A

1 paper

NM_001683.5

p.G457S

c.1369G>A

1 paper

NM_001001331.4

p.D499N

c.1495G>A

1 paper

NM_001001331.4

p.C497C

c.1491C>T

1 paper

NM_001001331.4

p.C497S

c.1490G>C

1 paper

NM_001001331.4

p.C497S

c.1489T>A

1 paper

NM_001001331.4

p.A541V

c.1622C>T

1 paper

NM_001001331.4

p.I542I

c.1626C>T

1 paper

NM_001001331.4

p.A543T

c.1627G>A