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

5 papers

NM_170665.4

p.R673delFs

c.2017delC

Surrounding Variants

4 papers

NM_170665.4

p.A672P

c.2014G>C

2 papers

NM_170665.4

p.R673fs

c.2017_2018fs

1 paper

NM_170665.4

p.R673H

c.2018G>A

2 papers

NM_170665.4

p.C674S

c.2020T>A

2 papers

NM_170665.4

p.C674S

c.2021G>C

1 paper

NM_170665.4

p.C669_L670insG

c.2005_2009ins3

6 papers

NM_170665.4

p.F675S

c.2024T>C

5 papers

NM_170665.4

p.A676insFs

c.2026_2027insG

1 paper

NM_170665.4

p.A676fs

c.2026_2027fs

1 paper

NM_170665.4

p.A676D

c.2027C>A

8 papers

NM_170665.4

p.R677*

c.2029C>T

1 paper

NM_170665.4

p.R677P

c.2030G>C