Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.S475L

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
30 papers
NM_000391.4
p.S475L
c.1424C>T
Surrounding Variants
2 papers
NM_000391.4
p.S475A
c.1423T>G
1 paper
NM_000391.4
p.S475Fs
c.1425delinsATFs
4 papers
NM_000391.4
p.S475delFs
c.1424delG
2 papers
NM_000391.4
p.S475fs
c.1423_1424fs
1 paper
NM_000391.4
p.S475_A476Splc
c.1425+1G>T
2 papers
NM_000391.4
p.S475_A476Splc
c.1425+1G>C
9 papers
NM_000391.4
p.G473R
c.1417G>C
11 papers
NM_000391.4
p.G473R
c.1417G>A
1 paper
NM_000391.4
p.S472A
c.1414T>G
1 paper
NM_000391.4
p.W470L
c.1409G>T
1 paper
NM_000391.4
p.W470G
c.1408T>G
1 paper
NM_000391.4
p.S475_A476Splc
c.1425+20C>A
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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."