Varaico: Literature-Extracted Genetic Variants

Gene:PRSS53
Variant:p.L459M

PRSS53

50 papers

Pfam Domains

Trypsinaa 39–268UCSCTrypsin
Trypsinaa 302–521UCSCTrypsin

Gene Aliases

HGNC Name

serine protease 53

HGNC Alias Symbol

POL3S

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001039503.3
p.L459M
c.1375C>A
Surrounding Variants
1 paper
NM_001039503.3
p.P460L
c.1379C>T
1 paper
NM_001039503.3
p.Q432H
c.1296G>T
1 paper
NM_001039503.3
p.Q432H
c.1296G>C
1 paper
NM_001039503.3
p.I428M
c.1284C>G
1 paper
NM_001039503.3
p.P411insFs
c.1232_1233insG
6 papers
NM_001039503.3
p.P406A
c.1216C>G
1 paper
NM_001039503.3
p.G479W
c.1435G>T
1 paper
NM_001039503.3
p.Y381fs
c.1141_1142fs
1 paper
NM_001039503.3
p.G380insFs
c.1139dupG
1 paper
NM_001039503.3
p.A373G
c.1118C>G
1 paper
NM_001039503.3
p.P360L
c.1079C>T
1 paper
NM_001039503.3
p.A509G
c.1526C>G
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