Varaico: Literature-Extracted Genetic Variants

Gene:PRSS54
Variant:p.R324R

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.R324R
c.970C>A
Surrounding Variants
1 paper
NM_001305173.2
p.T295A
c.883A>G
2 papers
NM_001305173.2
p.P353H
c.1058C>A
1 paper
NM_001305173.2
p.L354fs
c.1060_1061fs
1 paper
NM_001305173.2
p.L354delFs
c.1062delT
1 paper
NM_001305173.2
p.H279H
c.837C>T
1 paper
NM_001305173.2
p.R374K
c.1121G>A
1 paper
NM_001305173.2
p.A271A
c.813C>T
1 paper
NM_001305173.2
p.E379K
c.1135G>A
1 paper
NM_001305173.2
p.T247M
c.740C>T
1 paper
NM_001305173.2
p.E246A
c.737A>C
1 paper
NM_001305173.2
p.E246K
c.736G>A
1 paper
NM_001305173.2
p.V240I
c.718G>A
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