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

12 papers

NM_170665.4

p.G769R

c.2305G>A

Surrounding Variants

12 papers

NM_170665.4

p.G769R

c.2305G>C

1 paper

NM_170665.4

p.E770V

c.2309A>T

28 papers

NM_170665.4

p.N767S

c.2300A>G

7 papers

NM_170665.4

p.N767D

c.2299A>G

1 paper

NM_170665.4

p.V772_C773delFs

c.2315_2318del4

3 papers

NM_170665.4

p.N767del1

c.2299_2300delAAC

1 paper

NM_170665.4

p.S765S

c.2295G>A

4 papers

NM_170665.4

p.S765W

c.2294C>G

9 papers

NM_170665.4

p.S765L

c.2294C>T

4 papers

NM_170665.4

p.C773R

c.2317T>C

1 paper

NM_170665.4

p.I764N

c.2291T>A

1 paper

NM_170665.4

p.C773Splc

c.2318+2T>C