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.V795A

c.2384T>C

Surrounding Variants

2 papers

NM_004320.6

p.T799A

c.2395A>G

2 papers

NM_004320.6

p.D800N

c.2398G>A

1 paper

NM_004320.6

p.V790A

c.2369T>C

6 papers

NM_004320.6

p.P789L

c.2366C>T

1 paper

NM_004320.6

p.L802V

c.2404C>G

1 paper

NM_004320.6

p.T805A

c.2413A>G

1 paper

NM_004320.6

p.A806V

c.2417C>T

1 paper

NM_004320.6

p.G808A

c.2423G>C

1 paper

NM_004320.6

p.A780V

c.2339C>T

1 paper

NM_004320.6

p.A780T

c.2338G>A

1 paper

NM_004320.6

p.P811T

c.2431C>A

1 paper

NM_004320.6

p.P811A

c.2431C>G