Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.R259fs

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.R259fs
c.775_776fs
Surrounding Variants
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
1 paper
NM_000391.4
p.R259R
c.777T>A
1 paper
NM_000391.4
p.V261A
c.782T>C
1 paper
NM_000391.4
p.Q263*
c.787C>T
1 paper
NM_000391.4
p.A255_G262del0
c.765_785del21
1 paper
NM_000391.4
p.H253del1
c.757_759delATG
1 paper
NM_000391.4
p.Q263fs
c.787_788fs
6 papers
NM_000391.4
p.Q264*
c.790C>T
1 paper
NM_000391.4
p.Q254K
c.760C>A
1 paper
NM_000391.4
p.H253delFs
c.757delG
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