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

1 paper

NM_004320.6

p.S265A

c.793T>G

Surrounding Variants

1 paper

NM_004320.6

p.C268S

c.802T>A

3 papers

NM_004320.6

p.C268F

c.803G>T

1 paper

NM_004320.6

p.S261A

c.781T>G

1 paper

NM_004320.6

p.A270T

c.808G>A

1 paper

NM_004320.6

p.A270A

c.810T>A

1 paper

NM_004320.6

p.G257R

c.769G>C

2 papers

NM_004320.6

p.F256V

c.766T>G

1 paper

NM_004320.6

p.N280S

c.839A>G

1 paper

NM_004320.6

p.D281N

c.841G>A

1 paper

NM_004320.6

p.D281A

c.842A>C

1 paper

NM_004320.6

p.P282A

c.844C>G

1 paper

NM_004320.6

p.P282S

c.844C>T