Varaico: Literature-Extracted Genetic Variants

ATP2B3

266 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 51–121UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 190–293UCSCP-type ATPase actuator domain

Cation_ATPaseaa 507–686UCSCP-type ATPase, cytoplasmic domain N

Hydrolase_3aa 764–839UCSChaloacid dehalogenase-like hydrolase

Cation_ATPase_Caa 876–1058UCSCCation transporting ATPase, C-terminus

ATP_Ca_trans_Caa 1100–1146UCSCPlasma membrane calcium transporter ATPase C terminal

Gene Aliases

HGNC Name

ATPase plasma membrane Ca2+ transporting 3

HGNC Previous Symbols

SCAX1; CLA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001001344.3

p.E147Fs

c.441delinsAAFs

Surrounding Variants

1 paper

NM_001001344.3

p.E147Q

c.439G>C

1 paper

NM_001001344.3

p.E149ins1

c.445_446insTGG

1 paper

NM_001001344.3

p.E149_A150del1

c.446_448delAGG

1 paper

NM_001001344.3

p.E149K

c.445G>A

3 papers

NM_001001344.3

p.E149ins1

c.446_447insGAA

1 paper

NM_001001344.3

p.E149ins1

c.445_446insGAA

2 papers

NM_001001344.3

p.E149ins1

c.446_447insAAC

1 paper

NM_001001344.3

p.E149_A150ins1

c.447_448insATT

1 paper

NM_001001344.3

p.E145V

c.434A>T

1 paper

NM_001001344.3

p.A150ins3

c.448_449ins9

3 papers

NM_001001344.3

p.E145K

c.433G>A

8 papers

NM_001001344.3

p.E145Q

c.433G>C