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

3 papers

NM_170665.4

p.W927insFs

c.2779_2780insC

Surrounding Variants

3 papers

NM_170665.4

p.W927fs

c.2779_2780fs

2 papers

NM_170665.4

p.W927delFs

c.2779delT

5 papers

NM_170665.4

p.P926R

c.2777C>G

3 papers

NM_170665.4

p.P926insFs

c.2778dupC

1 paper

NM_170665.4

p.M924fs

c.2770_2771fs

1 paper

NM_170665.4

p.I930_V933delFs

c.2790_2797del8

1 paper

NM_170665.4

p.W931fs

c.2791_2792fs

2 papers

NM_170665.4

p.V933M

c.2797G>A

1 paper

NM_170665.4

p.V933A

c.2798T>C

17 papers

NM_170665.4

p.S920Y

c.2759C>A

7 papers

NM_170665.4

p.S920F

c.2759C>T

1 paper

NM_170665.4

p.S935F

c.2804C>T