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

1 paper

NM_170665.4

p.K135_S136delFs

c.403_406del4

Surrounding Variants

1 paper

NM_170665.4

p.Q132P

c.395A>C

12 papers

NM_170665.4

p.R131Q

c.392G>A

7 papers

NM_170665.4

p.R131L

c.392G>T

6 papers

NM_170665.4

p.R131*

c.391C>T

1 paper

NM_170665.4

p.V129M

c.385G>A

1 paper

NM_170665.4

p.G127D

c.380G>A

1 paper

NM_170665.4

p.A142S

c.424G>T

1 paper

NM_170665.4

p.K143_P147del5

c.427_440del15

1 paper

NM_170665.4

p.E125K

c.373G>A

1 paper

NM_170665.4

p.P124_M126del3

c.370_377del9

3 papers

NM_170665.4

p.Y122*

c.366T>A

3 papers

NM_170665.4

p.Y122*

c.366T>G