Varaico: Literature-Extracted Genetic Variants

ATP2A3

133 papers

RefSeq Summary

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP couple...

Pfam Domains

Cation_ATPase_Naa 4–72UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 121–240UCSCP-type ATPase actuator domain

Cation_ATPaseaa 409–606UCSCP-type ATPase, cytoplasmic domain N

Hydrolase_3aa 684–747UCSChaloacid dehalogenase-like hydrolase

Cation_ATPase_Caa 784–987UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3

HGNC Alias Symbol

SERCA3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005173.4

p.K515_G516Splc

c.1545+2T>G

Surrounding Variants

1 paper

NM_005173.4

p.S510N

c.1529G>A

1 paper

NM_005173.4

p.P505L

c.1514C>T

1 paper

NM_005173.4

p.P505T

c.1513C>A

1 paper

NM_005173.4

p.R491R

c.1471C>A

1 paper

NM_005173.4

p.R489*

c.1465C>T

2 papers

NM_005173.4

p.F487S

c.1460T>C

2 papers

NM_005173.4

p.T473M

c.1418C>T

1 paper

NM_005173.4

p.D458N

c.1372G>A

1 paper

NM_005173.4

p.V454M

c.1360G>A

1 paper

NM_005173.4

p.A430_E435del6

c.1288_1304del18

1 paper

NM_005173.4

p.Y434Y

c.1302T>C

1 paper

NM_005173.4

p.E519_S520insFs

c.1557_1558ins11