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

2 papers

NM_001001344.3

p.G157delins

c.470_471delinsAA

Surrounding Variants

1 paper

NM_001001344.3

p.G157V

c.470G>T

1 paper

NM_001001344.3

p.G157W

c.469G>T

1 paper

NM_001001344.3

p.A158V

c.473C>T

1 paper

NM_001001344.3

p.E156K

c.466G>A

1 paper

NM_001001344.3

p.I155I

c.465C>T

1 paper

NM_001001344.3

p.E156_G157del1

c.467_469delAGG

1 paper

NM_001001344.3

p.W154R

c.460T>A

1 paper

NM_001001344.3

p.L161delFs

c.483delG

1 paper

NM_001001344.3

p.G153_V164ins4

c.457_492dup36

2 papers

NM_001001344.3

p.E151K

c.451G>A

3 papers

NM_001001344.3

p.E151Q

c.451G>C

2 papers

NM_001001344.3

p.A150_E151ins1

c.450_451insATG