Varaico: Literature-Extracted Genetic Variants

Gene:PRSS48

PRSS48

35 papers

Pfam Domains

Trypsinaa 28–262UCSCTrypsin

Gene Aliases

HGNC Name

serine protease 48

HGNC Alias Symbol

ESSPL

Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
7 papers
NM_183375.5
p.W41_Q42insFs
c.123_124ins5
7 papers
NM_183375.5
p.C53Y
c.158G>A
6 papers
NM_183375.5
p.S44fs
c.130_131fs
6 papers
NM_183375.5
p.R290C
c.868C>T
3 papers
NM_183375.5
p.S44fs
c.130_131fs
3 papers
NM_183375.5
p.Q123_V124ins5
c.367_371ins15
3 papers
NM_183375.5
p.*329E
c.985T>G
2 papers
NM_183375.5
p.S44insFs
c.131_132ins5
2 papers
NM_183375.5
p.L131_P132ins5
c.391_395ins15
1 paper
NM_183375.5
p.G30D
c.89G>A
1 paper
NM_183375.5
p.Q32Q
c.96G>A
1 paper
NM_183375.5
p.W41fs
c.121_122fs
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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."