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

15 papers

NM_170665.4

p.G23E

c.68G>A

Surrounding Variants

1 paper

NM_170665.4

p.L24M

c.70C>A

1 paper

NM_170665.4

p.T22S

c.64A>T

1 paper

NM_170665.4

p.E27delFs

c.79delG

2 papers

NM_170665.4

p.E27fs

c.79_80fs

1 paper

NM_170665.4

p.V18_T22delins

c.52_65delinsTGAGTGGAGGA

1 paper

NM_170665.4

p.V29I

c.85G>A

3 papers

NM_170665.4

p.K30insFs

c.88dupA

1 paper

NM_170665.4

p.V29V

c.87C>T

1 paper

NM_170665.4

p.F16delFs

c.48delC

1 paper

NM_170665.4

p.F16V

c.46T>G

2 papers

NM_170665.4

p.L32_E34del3

c.94_101del9

1 paper

NM_170665.4

p.G14G

c.42C>G