Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.N250K

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
1 paper
NM_000391.4
p.N250K
c.750C>A
Surrounding Variants
1 paper
NM_000391.4
p.N250K
c.750C>G
1 paper
NM_000391.4
p.H253delFs
c.757delG
1 paper
NM_000391.4
p.Q254K
c.760C>A
1 paper
NM_000391.4
p.H253del1
c.757_759delATG
4 papers
NM_000391.4
p.M244T
c.731T>C
3 papers
NM_000391.4
p.F243L
c.729C>G
3 papers
NM_000391.4
p.F243L
c.729C>A
3 papers
NM_000391.4
p.F243L
c.727T>C
3 papers
NM_000391.4
p.R259fs
c.775_776fs
2 papers
NM_000391.4
p.R259insFs
c.775_776insA
3 papers
NM_000391.4
p.R259delFs
c.775delG
1 paper
NM_000391.4
p.R259fs
c.775_776fs
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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."