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

1–12 of 495 variants

15 papers

NM_001001344.3

p.G1107D

c.3320G>A

10 papers

NM_001001344.3

p.V424_V426del0

c.1272_1277del6

8 papers

NM_001001344.3

p.E145Q

c.433G>C

8 papers

NM_001001344.3

p.R482H

c.1445G>A

6 papers

NM_001001344.3

p.V427_V429del0

c.1281_1286del6

5 papers

NM_001001344.3

p.R35C

c.103C>T

5 papers

NM_001001344.3

p.L425_V426del0

c.1273_1278del6

5 papers

NM_001001344.3

p.V426_A428del0

c.1277_1282del6

5 papers

NM_001001344.3

p.V864V

c.2592G>C

4 papers

NM_001001344.3

p.V168G

c.503T>G

4 papers

NM_001001344.3

p.T407M

c.1220C>T

4 papers

NM_001001344.3

p.Y410D

c.1228T>G