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

11 papers

NM_170665.4

p.C268F

c.803G>T

Surrounding Variants

2 papers

NM_170665.4

p.C268Y

c.803G>A

1 paper

NM_170665.4

p.A270T

c.808G>A

1 paper

NM_170665.4

p.L266F

c.796C>T

2 papers

NM_170665.4

p.W272*

c.815G>A

2 papers

NM_170665.4

p.W272*

c.816G>A

9 papers

NM_170665.4

p.I274V

c.820A>G

1 paper

NM_170665.4

p.I276_N280del0

c.826_840del15

1 paper

NM_170665.4

p.S261S

c.783C>T

1 paper

NM_170665.4

p.S261P

c.781T>C

1 paper

NM_170665.4

p.I276insFs

c.826_827insA

1 paper

NM_170665.4

p.I276_D281delFs

c.827_842del16

1 paper

NM_170665.4

p.I276fs

c.826_827fs