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.L425delFs

c.1275delG

Surrounding Variants

5 papers

NM_001001344.3

p.V426_A428del0

c.1277_1282del6

1 paper

NM_001001344.3

p.L425_V429del0

c.1275_1286del12

4 papers

NM_001001344.3

p.V426del1

c.1276_1277delGTC

2 papers

NM_001001344.3

p.V426_V429del0

c.1276_1287del12

5 papers

NM_001001344.3

p.L425_V426del0

c.1273_1278del6

1 paper

NM_001001344.3

p.V426fs

c.1276_1277fs

1 paper

NM_001001344.3

p.V426_L433Fs

c.1277_1298delinsACAFs

2 papers

NM_001001344.3

p.V427del1

c.1279_1280delGTG

6 papers

NM_001001344.3

p.V427_V429del0

c.1281_1286del6

10 papers

NM_001001344.3

p.V424_V426del0

c.1272_1277del6

1 paper

NM_001001344.3

p.V424_A428del0

c.1271_1282del12

4 papers

NM_001001344.3

p.T423_L425del0

c.1269_1274del6