Varaico: Literature-Extracted Genetic Variants

Gene:ACR
Variant:p.M296V

ACR

97 papers

RefSeq Summary

Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proa...

Pfam Domains

Trypsinaa 43–285UCSCTrypsin

Gene Aliases

HGNC Name

acrosin

HGNC Alias Names

preproacrosin; acrosin light and heavy chain prepropeptide

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001097.3
p.M296V
c.886A>G
Surrounding Variants
1 paper
NM_001097.3
p.Q298*
c.892C>T
1 paper
NM_001097.3
p.A300G
c.899C>G
1 paper
NM_001097.3
p.S291P
c.871T>C
1 paper
NM_001097.3
p.P305P
c.915C>T
1 paper
NM_001097.3
p.A286T
c.856G>A
1 paper
NM_001097.3
p.R308R
c.924A>G
1 paper
NM_001097.3
p.W279C
c.837G>T
1 paper
NM_001097.3
p.G265delFs
c.793_794delGG
1 paper
NM_001097.3
p.C246S
c.737G>C
1 paper
NM_001097.3
p.L244L
c.732C>A
1 paper
NM_001097.3
p.P352S
c.1054C>T
1 paper
NM_001097.3
p.A358P
c.1072G>C
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