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

3 papers

NM_170665.4

p.E2_N3insFs

c.6_7insAA

Surrounding Variants

1 paper

NM_170665.4

p.E2insFs

c.5_6insA

1 paper

NM_170665.4

p.E2insFs

c.5_6insAA

1 paper

NM_170665.4

p.N3K

c.9C>A

1 paper

NM_170665.4

p.N3N

c.9C>T

1 paper

NM_170665.4

p.M1I

c.3G>A

1 paper

NM_170665.4

p.M1I

c.3G>C

1 paper

NM_170665.4

p.M1I

c.3G>T

2 papers

NM_170665.4

p.M1T

c.2T>C

2 papers

NM_170665.4

p.M1insFs

c.2dupT

1 paper

NM_170665.4

p.M1L

c.1A>C

10 papers

NM_170665.4

p.M1V

c.1A>G

4 papers

NM_170665.4

p.M1L

c.1A>T