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.S470L

c.1409C>T

Surrounding Variants

1 paper

NM_001001331.4

p.S470S

c.1410G>A

1 paper

NM_001001331.4

p.K472_K473Splc

c.1416+28C>T

2 papers

NM_001683.5

p.E412K

c.1234G>A

NM_001001331.4

p.E457K

c.1369G>A

1 paper

NM_001001331.4

p.G447D

c.1340G>A

4 papers

NM_001001331.4

p.P434P

c.1302C>T

1 paper

NM_001001331.4

p.T433T

c.1299G>A

1 paper

NM_001001331.4

p.K425K

c.1275G>A

1 paper

NM_001001331.4

p.T408T

c.1224G>T

1 paper

NM_001001331.4

p.T408M

c.1223C>T

1 paper

NM_001683.5

p.S339A

c.1015T>G

1 paper

NM_001683.5

p.E337A

c.1010A>C

1 paper

NM_001001331.4

p.D369N

c.1105G>A