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.A324G

c.971C>G

Surrounding Variants

1 paper

NM_001001331.4

p.A327V

c.980C>T

1 paper

NM_001001331.4

p.S321*

c.962C>G

1 paper

NM_001001331.4

p.S321*

c.962C>A

1 paper

NM_001001331.4

p.A329T

c.985G>A

1 paper

NM_001001331.4

p.A319fs

c.955_956fs

1 paper

NM_001001331.4

p.A319delFs

c.955delC

1 paper

NM_001001331.4

p.A318V

c.953C>T

1 paper

NM_001001331.4

p.D316del1

c.946_948delGTC

1 paper

NM_001001331.4

p.V332fs

c.994_995fs

1 paper

NM_001001331.4

p.A314Splc

c.941-2A>G

1 paper

NM_001001331.4

p.L310I

c.928C>A

1 paper

NM_001001331.4

p.D308G

c.923A>G