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.S507insFs

c.1520_1521insCC

Surrounding Variants

1 paper

NM_170665.4

p.T506_S507ins2

c.1518_1519ins6

1 paper

NM_170665.4

p.K510Q

c.1528A>C

2 papers

NM_170665.4

p.P503fs

c.1507_1508fs

4 papers

NM_170665.4

p.P503delFs

c.1508delC

1 paper

NM_170665.4

p.M511T

c.1532T>C

1 paper

NM_170665.4

p.N501H

c.1501A>C

1 paper

NM_170665.4

p.K514Q

c.1540A>C

2 papers

NM_170665.4

p.K514E

c.1540A>G

5 papers

NM_170665.4

p.K514R

c.1541A>G

3 papers

NM_170665.4

p.K514_G515Splc

c.1542+5G>A

1 paper

NM_170665.4

p.K514_G515Splc

c.1542+6T>A

5 papers

NM_170665.4

p.S495*

c.1484C>A