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.M1I

c.3G>C

Surrounding Variants

1 paper

NM_001001344.3

p.M1I

c.3G>A

2 papers

NM_001001344.3

p.M1I

c.3G>T

1 paper

NM_001001344.3

p.M1V

c.1A>G

1 paper

NM_001001344.3

p.D3delFs

c.8delA

1 paper

NM_001001344.3

p.M4L

c.10A>T

1 paper

NM_001001344.3

p.M4delFs

c.11delT

1 paper

NM_001001344.3

p.M4I

c.12G>A

2 papers

NM_001001344.3

p.M4I

c.12G>C

2 papers

NM_001001344.3

p.A5P

c.13G>C

1 paper

NM_001001344.3

p.N6I

c.17A>T

1 paper

NM_001001344.3

p.S8delFs

c.22_23delTC

1 paper

NM_001001344.3

p.S8del1

c.22_23delTCC