Varaico: Literature-Extracted Genetic Variants

Gene:PRSS48
Variant:p.*329E

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
3 papers
NM_183375.5
p.*329E
c.985T>G
Surrounding Variants
1 paper
NM_183375.5
p.G327D
c.980G>A
1 paper
NM_183375.5
p.H301D
c.901C>G
6 papers
NM_183375.5
p.R290C
c.868C>T
1 paper
NM_183375.5
p.L286P
c.857T>C
1 paper
NM_183375.5
p.P193R
c.578C>G
1 paper
NM_183375.5
p.G189S
c.565G>A
2 papers
NM_183375.5
p.L131_P132ins5
c.391_395ins15
1 paper
NM_183375.5
p.A129_I130ins5
c.385_389ins15
1 paper
NM_183375.5
p.F126_T127ins5
c.376_380ins15
3 papers
NM_183375.5
p.Q123_V124ins5
c.367_371ins15
1 paper
NM_183375.5
p.S122C
c.365C>G
1 paper
NM_183375.5
p.Y98Y
c.294C>T
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