Varaico: Literature-Extracted Genetic Variants

ATP2A1

221 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 683–747UCSChaloacid dehalogenase-like hydrolase

Cation_ATPase_Caa 784–987UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

HGNC Alias Symbol

SERCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_004320.6

p.E309Q

c.925G>C

Surrounding Variants

1 paper

NM_004320.6

p.E309K

c.925G>A

1 paper

NM_004320.6

p.E309A

c.926A>C

1 paper

NM_004320.6

p.G310A

c.929G>C

3 papers

NM_004320.6

p.G310V

c.929G>T

1 paper

NM_004320.6

p.A306T

c.916G>A

1 paper

NM_004320.6

p.A305A

c.915T>A

1 paper

NM_004320.6

p.V304A

c.911T>C

1 paper

NM_004320.6

p.V300A

c.899T>C

1 paper

NM_004320.6

p.A299V

c.896C>T

1 paper

NM_004320.6

p.I298S

c.893T>G

2 papers

NM_004320.6

p.A292G

c.875C>G

1 paper

NM_004320.6

p.G291R

c.871G>A