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

7 papers

NM_170665.4

p.S920F

c.2759C>T

Surrounding Variants

17 papers

NM_170665.4

p.S920Y

c.2759C>A

4 papers

NM_170665.4

p.E917K

c.2749G>A

6 papers

NM_170665.4

p.E917*

c.2749G>T

1 paper

NM_170665.4

p.M924fs

c.2770_2771fs

6 papers

NM_170665.4

p.S916Y

c.2747C>A

2 papers

NM_170665.4

p.S916F

c.2747C>T

3 papers

NM_170665.4

p.P926insFs

c.2778dupC

1 paper

NM_170665.4

p.S916insFs

c.2746_2747insCC

1 paper

NM_170665.4

p.L915ins2

c.2744_2745ins6

1 paper

NM_170665.4

p.L915fs

c.2743_2744fs

5 papers

NM_170665.4

p.P926R

c.2777C>G

1 paper

NM_170665.4

p.S914Splc

c.2742-1G>A