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

12 papers

NM_170665.4

p.T357K

c.1070C>A

Surrounding Variants

4 papers

NM_170665.4

p.T357R

c.1070C>G

2 papers

NM_170665.4

p.T357I

c.1070C>T

3 papers

NM_170665.4

p.T357fs

c.1069_1070fs

2 papers

NM_170665.4

p.T357_M361delFs

c.1070_1082del13

1 paper

NM_170665.4

p.G354R

c.1060G>C

2 papers

NM_170665.4

p.S362L

c.1085C>T

2 papers

NM_170665.4

p.C364*

c.1092C>A

1 paper

NM_170665.4

p.C349delFs

c.1045delT

2 papers

NM_170665.4

p.R365_M366Splc

c.1095+1G>A

4 papers

NM_170665.4

p.R365_M366Splc

c.1095+1G>C

9 papers

NM_170665.4

p.I348T

c.1043T>C

1 paper

NM_170665.4

p.S346F

c.1037C>T