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.V314A

c.941T>C

Surrounding Variants

2 papers

NM_170665.4

p.I315F

c.943A>T

1 paper

NM_170665.4

p.A313T

c.937G>A

4 papers

NM_170665.4

p.T316delFs

c.948delC

1 paper

NM_170665.4

p.P312R

c.935C>G

1 paper

NM_170665.4

p.T317insFs

c.949_950insA

1 paper

NM_170665.4

p.T317_L319delFs

c.949_956del8

2 papers

NM_170665.4

p.T317fs

c.949_950fs

1 paper

NM_170665.4

p.C318S

c.952T>A

13 papers

NM_170665.4

p.C318R

c.952T>C

4 papers

NM_170665.4

p.C318Y

c.953G>A

1 paper

NM_170665.4

p.C318S

c.953G>C

10 papers

NM_170665.4

p.G310V

c.929G>T