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.V300E

c.899T>A

Surrounding Variants

1 paper

NM_005173.4

p.V300A

c.899T>C

1 paper

NM_005173.4

p.A299A

c.897C>T

1 paper

NM_005173.4

p.A303V

c.908C>T

1 paper

NM_005173.4

p.K297E

c.889A>G

1 paper

NM_005173.4

p.V304A

c.911T>C

1 paper

NM_005173.4

p.A292G

c.875C>G

1 paper

NM_005173.4

p.E309D

c.927G>T

1 paper

NM_005173.4

p.E309D

c.927G>C

1 paper

NM_005173.4

p.G310V

c.929G>T

1 paper

NM_005173.4

p.V314A

c.941T>C

2 papers

NM_005173.4

p.G285S

c.853G>A

1 paper

NM_005173.4

p.H284L

c.851A>T