Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.S288C

TPP1

622 papers

RefSeq Summary

This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. ...

Pfam Domains

Pro-kuma_activaa 33–176UCSCPro-kumamolisin, activation domain
Peptidase_S8aa 299–498UCSCSubtilase family

Gene Aliases

HGNC Name

tripeptidyl peptidase 1

HGNC Previous Symbols

CLN2; SCAR7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000391.4
p.S288C
c.863C>G
Surrounding Variants
1 paper
NM_000391.4
p.I287S
c.860T>G
12 papers
NM_000391.4
p.I287N
c.860T>A
2 papers
NM_000391.4
p.W290L
c.869G>T
21 papers
NM_000391.4
p.N286S
c.857A>G
1 paper
NM_000391.4
p.V291_Y292insC
c.871_875ins3
1 paper
NM_000391.4
p.A285V
c.854C>T
15 papers
NM_000391.4
p.G284V
c.851G>T
1 paper
NM_000391.4
p.S293N
c.878G>A
1 paper
NM_000391.4
p.M281I
c.843G>T
1 paper
NM_000391.4
p.M281I
c.843G>C
1 paper
NM_000391.4
p.M281I
c.843G>A
1 paper
NM_000391.4
p.P295_G296ins3
c.883_887ins9
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."