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

7 papers

NM_004320.6

p.G211V

c.632G>T

Surrounding Variants

2 papers

NM_004320.6

p.G211D

c.632G>A

1 paper

NM_004320.6

p.T212A

c.634A>G

1 paper

NM_004320.6

p.I214M

c.642T>G

1 paper

NM_004320.6

p.A216G

c.647C>G

1 paper

NM_004320.6

p.K218*

c.652A>T

1 paper

NM_004320.6

p.A219T

c.655G>A

1 paper

NM_004320.6

p.G221S

c.661G>A

1 paper

NM_004320.6

p.V223M

c.667G>A

1 paper

NM_004320.6

p.T226T

c.678T>C

1 paper

NM_004320.6

p.G227S

c.679G>A

1 paper

NM_004320.6

p.G233R

c.697G>A

1 paper

NM_004320.6

p.G233R

c.697G>C