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

2 papers

NM_170665.4

p.K712delFs

c.2134delA

Surrounding Variants

1 paper

NM_170665.4

p.K712Q

c.2134A>C

1 paper

NM_170665.4

p.A713S

c.2137G>T

1 paper

NM_170665.4

p.A713fs

c.2137_2138fs

1 paper

NM_170665.4

p.E714Q

c.2140G>C

5 papers

NM_170665.4

p.P708H

c.2123C>A

1 paper

NM_170665.4

p.P708L

c.2123C>T

6 papers

NM_170665.4

p.D706N

c.2116G>A

2 papers

NM_170665.4

p.N705K

c.2115C>A

2 papers

NM_170665.4

p.N705K

c.2115C>G

2 papers

NM_170665.4

p.M719fs

c.2155_2156fs

2 papers

NM_170665.4

p.G720delFs

c.2158delG

8 papers

NM_170665.4

p.M719I

c.2157G>A