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.G1074R

c.3220G>C

Surrounding Variants

2 papers

NM_001001344.3

p.G1074R

c.3220G>A

1 paper

NM_001001344.3

p.H1071H

c.3213C>T

1 paper

NM_001001344.3

p.G1070R

c.3208G>A

1 paper

NM_001001344.3

p.G1070R

c.3208G>C

1 paper

NM_001001344.3

p.E1068_A1069del2

c.3202_3206del6

2 papers

NM_001001344.3

p.E1081Q

c.3241G>C

1 paper

NM_001001344.3

p.L1063P

c.3188T>C

1 paper

NM_001001344.3

p.L1063del1

c.3187_3188delCTC

1 paper

NM_001001344.3

p.A1056S

c.3166G>T

1 paper

NM_001001344.3

p.H1092H

c.3276T>C

1 paper

NM_001001344.3

p.G1100S

c.3298G>A

2 papers

NM_001001344.3

p.R1106Q

c.3317G>A