Varaico: Literature-Extracted Genetic Variants

Gene:TPSG1
Variant:p.P252L

TPSG1

45 papers

RefSeq Summary

Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endo...

Pfam Domains

Trypsinaa 38–265UCSCTrypsin

Gene Aliases

HGNC Name

tryptase gamma 1

HGNC Alias Symbol

PRSS31

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012467.4
p.P252L
c.755C>T
Surrounding Variants
1 paper
NM_012467.4
p.R257C
c.769C>T
1 paper
NM_012467.4
p.W242C
c.726G>T
1 paper
NM_012467.4
p.W242C
c.726G>C
1 paper
NM_012467.4
p.R266H
c.797G>A
1 paper
NM_012467.4
p.G273R
c.817G>C
1 paper
NM_012467.4
p.G273R
c.817G>A
1 paper
NM_012467.4
p.L226M
c.676C>A
2 papers
NM_012467.4
p.G223R
c.667G>C
2 papers
NM_012467.4
p.G223R
c.667G>A
1 paper
NM_012467.4
p.L282I
c.844C>A
3 papers
NM_012467.4
p.F288L
c.862T>C
3 papers
NM_012467.4
p.F288L
c.864C>G
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