Varaico: Literature-Extracted Genetic Variants

Gene:PRSS48
Variant:p.S44R

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
Selected Variant
1 paper
NM_183375.5
p.S44R
c.130A>C
Surrounding Variants
6 papers
NM_183375.5
p.S44fs
c.130_131fs
3 papers
NM_183375.5
p.S44fs
c.130_131fs
2 papers
NM_183375.5
p.S44insFs
c.131_132ins5
1 paper
NM_183375.5
p.S44R
c.132C>A
1 paper
NM_183375.5
p.S44R
c.132C>G
1 paper
NM_183375.5
p.V43fs
c.127_128fs
1 paper
NM_183375.5
p.Q42_V43insFs
c.126_127ins5
1 paper
NM_183375.5
p.Q42fs
c.124_125fs
7 papers
NM_183375.5
p.W41_Q42insFs
c.123_124ins5
1 paper
NM_183375.5
p.V43_S44delFs
c.127_131del5
1 paper
NM_183375.5
p.W41fs
c.121_122fs
7 papers
NM_183375.5
p.C53Y
c.158G>A
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