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.Y122*

c.366T>G

Surrounding Variants

1 paper

NM_004320.6

p.Y122*

c.366T>A

1 paper

NM_004320.6

p.P124L

c.371C>T

2 papers

NM_004320.6

p.E121fs

c.361_362fs

2 papers

NM_004320.6

p.E121insFs

c.361dupG

1 paper

NM_004320.6

p.E125*

c.373G>T

2 papers

NM_004320.6

p.R131Q

c.392G>A

1 paper

NM_004320.6

p.A112T

c.334G>A

1 paper

NM_004320.6

p.R134P

c.401G>C

1 paper

NM_004320.6

p.K135R

c.404A>G

1 paper

NM_004320.6

p.R110W

c.328C>T

1 paper

NM_004320.6

p.I140S

c.419T>G

3 papers

NM_004320.6

p.R143Q

c.428G>A