Varaico: Literature-Extracted Genetic Variants

ATP2A2

370 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 the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP...

Pfam Domains

Cation_ATPase_Naa 4–72UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 121–240UCSCP-type ATPase actuator domain

Cation_ATPaseaa 409–605UCSCP-type ATPase, cytoplasmic domain N

Hydrolase_3aa 682–746UCSChaloacid dehalogenase-like hydrolase

Cation_ATPase_Caa 783–986UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

HGNC Previous Symbol

DAR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_170665.4

p.I640insFs

c.1919dupT

Surrounding Variants

1 paper

NM_170665.4

p.G639S

c.1915G>A

2 papers

NM_170665.4

p.F641fs

c.1921_1922fs

3 papers

NM_170665.4

p.F641insFs

c.1922_1923insG

1 paper

NM_170665.4

p.I638F

c.1912A>T

1 paper

NM_170665.4

p.R637C

c.1909C>T

1 paper

NM_170665.4

p.T648K

c.1943C>A

3 papers

NM_170665.4

p.K650E

c.1948A>G

3 papers

NM_170665.4

p.D626E

c.1878C>A

3 papers

NM_170665.4

p.D626E

c.1878C>G

4 papers

NM_170665.4

p.G625A

c.1874G>C

1 paper

NM_170665.4

p.G625delFs

c.1875delG

1 paper

NM_170665.4

p.V620F

c.1858G>T