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

3 papers

NM_004320.6

p.N39T

c.116A>C

Surrounding Variants

4 papers

NM_004320.6

p.N39D

c.115A>G

1 paper

NM_004320.6

p.E40G

c.119A>G

1 paper

NM_004320.6

p.G37S

c.109G>A

5 papers

NM_004320.6

p.E34*

c.100G>T

1 paper

NM_004320.6

p.L33Q

c.98T>A

1 paper

NM_004320.6

p.D27G

c.80A>G

1 paper

NM_004320.6

p.P26Q

c.77C>A

1 paper

NM_004320.6

p.T25I

c.74C>T

1 paper

NM_004320.6

p.L24L

c.72C>A

1 paper

NM_004320.6

p.E20K

c.58G>A

1 paper

NM_004320.6

p.F16Y

c.47T>A

1 paper

NM_004320.6

p.Y15S

c.44A>C