Varaico: Literature-Extracted Genetic Variants

Gene:PRSS54
Variant:p.F69F

PRSS54

33 papers

RefSeq Summary

This gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015].

Pfam Domains

Trypsinaa 48–264UCSCTrypsin

Gene Aliases

HGNC Name

serine protease 54

HGNC Alias Symbols

FLJ25339; KLKBL4; CT67

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001305173.2
p.F69F
c.207C>T
Surrounding Variants
1 paper
NM_001305173.2
p.L73L
c.217C>T
1 paper
NM_001305173.2
p.M51insFs
c.151dupA
1 paper
NM_001305173.2
p.M51fs
c.151_152fs
1 paper
NM_001305173.2
p.P41H
c.122C>A
1 paper
NM_001305173.2
p.S36F
c.107C>T
1 paper
NM_001305173.2
p.V32I
c.94G>A
1 paper
NM_001305173.2
p.L21L
c.63C>T
1 paper
NM_001305173.2
p.M1L
c.1A>T
1 paper
NM_001305173.2
p.E119G
c.356A>G
1 paper
NM_001305173.2
p.N123S
c.368A>G
1 paper
NM_001305173.2
p.G168V
c.503G>T
3 papers
NM_001305173.2
p.S182G
c.544A>G
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