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

4 papers

NM_001001331.4

p.V1143F

c.3427G>T

Surrounding Variants

1 paper

NM_001001331.4

p.V1144L

c.3430G>T

1 paper

NM_001001331.4

p.E1176K

c.3526G>A

1 paper

NM_001001331.4

p.S1200W

c.3599C>G

1 paper

NM_001001331.4

p.S1201R

c.3601A>C

1 paper

NM_001001331.4

p.S1201R

c.3603C>G

1 paper

NM_001001331.4

p.S1201R

c.3603C>A

1 paper

NM_001001331.4

p.N1209D

c.3625A>G

1 paper

NM_001001331.4

p.A1212T

c.3634G>A

1 paper

NM_001683.5

p.L1089delFs

c.3266_3267delCA

3 papers

NM_001001331.4

p.V1113delFs

c.3338_3339delCA

2 papers

NM_001001331.4

p.V1113fs

c.3337_3338fs

3 papers

NM_001001331.4

p.V1113fs

c.3337_3338fs