Varaico: Literature-Extracted Genetic Variants

Gene:ACR
Variant:p.R81Q

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
1 paper
NM_001097.3
p.R81Q
c.242G>A
Surrounding Variants
2 papers
NM_001097.3
p.T72I
c.215C>T
1 paper
NM_001097.3
p.W56*
c.168G>A
2 papers
NM_001097.3
p.W56*
c.167G>A
1 paper
NM_001097.3
p.A53_W54insT
c.157_161ins3
1 paper
NM_001097.3
p.I43M
c.129C>G
1 paper
NM_001097.3
p.R42H
c.125G>A
1 paper
NM_001097.3
p.G30W
c.88G>T
1 paper
NM_001097.3
p.D26Splc
c.78-1G>A
1 paper
NM_001097.3
p.W99R
c.295T>C
1 paper
NM_001097.3
p.D26Splc
c.78-110G>A
1 paper
NM_001097.3
p.R100R
c.300A>G
1 paper
NM_001097.3
p.E132K
c.394G>A
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