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.V445_K446insTGG

c.1333_1337ins9

Surrounding Variants

1 paper

NM_001001344.3

p.A442S

c.1324G>T

1 paper

NM_001001344.3

p.T438S

c.1313C>G

1 paper

NM_001001344.3

p.T438S

c.1312A>T

1 paper

NM_001001344.3

p.L435del1

c.1303_1304delCTT

1 paper

NM_001001344.3

p.L433Q

c.1298T>A

2 papers

NM_001001344.3

p.L433_P434ins6

c.1297_1301ins18

1 paper

NM_001001344.3

p.L433del1

c.1297_1298delCTG

1 paper

NM_001001344.3

p.G432R

c.1294G>C

1 paper

NM_001001344.3

p.V429_P430del2

c.1285_1289del6

2 papers

NM_001001344.3

p.V427del1

c.1279_1280delGTG

6 papers

NM_001001344.3

p.V427_V429del0

c.1281_1286del6

1 paper

NM_001001344.3

p.V426_L433Fs

c.1277_1298delinsACAFs