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.E1010K

c.3028G>A

Surrounding Variants

1 paper

NM_001001331.4

p.N1012N

c.3036C>T

1 paper

NM_001001331.4

p.N1021S

c.3062A>G

1 paper

NM_001001331.4

p.F1023C

c.3068T>G

1 paper

NM_001001331.4

p.G1025S

c.3073G>A

1 paper

NM_001001331.4

p.R1028Q

c.3083G>A

1 paper

NM_001001331.4

p.S989L

c.2966C>T

2 papers

NM_001001331.4

p.A985V

c.2954C>T

1 paper

NM_001001331.4

p.N984S

c.2951A>G

1 paper

NM_001001331.4

p.I1042delFs

c.3124delT

1 paper

NM_001001331.4

p.V1045L

c.3133G>T

2 papers

NM_001001331.4

p.W1064*

c.3191G>A

1 paper

NM_001001331.4

p.W1064*

c.3192G>A