Varaico: Literature-Extracted Genetic Variants

Gene:PRSS27

PRSS27

174 papers

RefSeq Summary

This gene is located within a large protease gene cluster on chromosome 16. It belongs to the group-1 subfamily of serine proteases. The encoded protein is a secreted tryptic serine protease and is ex...

Pfam Domains

Trypsinaa 35–272UCSCTrypsin

Gene Aliases

HGNC Name

serine protease 27

HGNC Alias Symbols

MPN; CAPH2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 57 variants
7 papers
NM_031948.5
p.V143M
c.427G>A
5 papers
NM_031948.5
p.A215V
c.644C>T
2 papers
NM_031948.5
p.G220R
c.658G>C
2 papers
NM_031948.5
p.G220V
c.659G>T
1 paper
NM_031948.5
p.M1delFs
c.2delA
1 paper
NM_031948.5
p.P4P
c.12G>C
1 paper
NM_031948.5
p.P4P
c.12G>A
1 paper
NM_031948.5
p.A23T
c.67G>A
1 paper
NM_031948.5
p.R34Q
c.101G>A
1 paper
NM_031948.5
p.T41P
c.121A>C
1 paper
NM_031948.5
p.E45_Q49delFs
c.135_145del11
1 paper
NM_031948.5
p.F59S
c.176T>C
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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."