Varaico: Literature-Extracted Genetic Variants

Gene:PRSS48
Variant:p.S122C

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.S122C
c.365C>G
Surrounding Variants
3 papers
NM_183375.5
p.Q123_V124ins5
c.367_371ins15
1 paper
NM_183375.5
p.F126_T127ins5
c.376_380ins15
1 paper
NM_183375.5
p.A129_I130ins5
c.385_389ins15
2 papers
NM_183375.5
p.L131_P132ins5
c.391_395ins15
1 paper
NM_183375.5
p.Y98Y
c.294C>T
1 paper
NM_183375.5
p.S85S
c.255G>C
1 paper
NM_183375.5
p.W74*
c.222G>A
1 paper
NM_183375.5
p.W74*
c.221G>A
1 paper
NM_183375.5
p.G189S
c.565G>A
1 paper
NM_183375.5
p.P193R
c.578C>G
1 paper
NM_183375.5
p.A67T
c.199G>A
7 papers
NM_183375.5
p.C53Y
c.158G>A
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