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

1–12 of 227 variants

13 papers

NM_001001331.4

p.G283S

c.847G>A

10 papers

NM_001001331.4

p.G293S

c.877G>A

6 papers

NM_001001331.4

p.V519I

c.1555G>A

4 papers

NM_001001331.4

p.P434P

c.1302C>T

4 papers

NM_001683.5

p.V586M

c.1756G>A

4 papers

NM_001001331.4

p.E1010K

c.3028G>A

4 papers

NM_001001331.4

p.V1143F

c.3427G>T

3 papers

NM_001001331.4

p.E629K

c.1885G>A

3 papers

NM_001001331.4

p.T1086fs

c.3256_3257fs

3 papers

NM_001001331.4

p.V1113fs

c.3337_3338fs

3 papers

NM_001001331.4

p.V1113delFs

c.3338_3339delCA

2 papers

NM_001001331.4

p.S18L

c.53C>T