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

8 papers

NM_001001344.3

p.R482H

c.1445G>A

Surrounding Variants

1 paper

NM_001001344.3

p.M483del1

c.1447_1448delATG

1 paper

NM_001001344.3

p.R482delFs

c.1444_1445delCG

1 paper

NM_001001344.3

p.R482delFs

c.1444delC

1 paper

NM_001001344.3

p.T480S

c.1439C>G

1 paper

NM_001001344.3

p.Q487E

c.1459C>G

1 paper

NM_001001344.3

p.L490I

c.1468C>A

1 paper

NM_001001344.3

p.G491G

c.1473A>G

1 paper

NM_001001344.3

p.H494_K496del3

c.1480_1487del9

1 paper

NM_001001344.3

p.C471delFs

c.1412delG

1 paper

NM_001001344.3

p.N466K

c.1398C>G

1 paper

NM_001001344.3

p.N466N

c.1398C>T

1 paper

NM_001001344.3

p.A467_A469del3

c.1399_1406del9