Varaico: Literature-Extracted Genetic Variants

Gene:ACYP2
Variant:p.M62Splc

ACYP2

17 papers

RefSeq Summary

Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been iso...

Pfam Domains

Acylphosphataseaa 10–65UCSCAcylphosphatase
Acylphosphataseaa 10–97UCSCAcylphosphatase

Gene Aliases

HGNC Name

acylphosphatase 2

HGNC Previous Name

acylphosphatase 2, muscle type

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138448.4
p.M62Splc
c.185+51255T>G
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