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.T828del1

c.2482_2483delACC

Surrounding Variants

1 paper

NM_001001344.3

p.I825I

c.2475C>T

1 paper

NM_001001344.3

p.I825T

c.2474T>C

1 paper

NM_001001344.3

p.D824N

c.2470G>A

1 paper

NM_001001344.3

p.D817N

c.2449G>A

1 paper

NM_001001344.3

p.G842delFs

c.2525delG

1 paper

NM_001001344.3

p.G842fs

c.2524_2525fs

3 papers

NM_001001344.3

p.M811_G812Splc

c.2434-3C>A

1 paper

NM_001001344.3

p.D847E

c.2541C>A

1 paper

NM_001001344.3

p.D847E

c.2541C>G

1 paper

NM_001001344.3

p.V862_V864del3

c.2584_2591del9

5 papers

NM_001001344.3

p.V864V

c.2592G>C

1 paper

NM_001001344.3

p.I865L

c.2593A>C