Varaico: Literature-Extracted Genetic Variants

Gene:ACYP2

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
1–12 of 15 variants
1 paper
NM_138448.4
p.Y26C
c.77A>G
1 paper
NM_138448.4
p.I34M
c.102A>G
1 paper
NM_138448.4
p.T43S
c.127A>T
1 paper
NM_138448.4
p.T43S
c.128C>G
1 paper
NM_138448.4
p.Q53*
c.157C>T
1 paper
NM_138448.4
p.M62Splc
c.185+51255T>G
1 paper
NM_138448.4
p.M62Splc
c.186-49272G>A
1 paper
NM_138448.4
p.M62Splc
c.186-48861C>T
1 paper
NM_138448.4
p.M62Splc
c.186-48753T>C
1 paper
NM_001320586.2
p.M135Splc
c.405-28913G>A
1 paper
NM_138448.4
p.W65delFs
c.194_195delGG
1 paper
NM_138448.4
p.L66M
c.196C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."