Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.V277fs

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.V277fs
c.829_830fs
Surrounding Variants
6 papers
NM_000391.4
p.V277M
c.829G>A
18 papers
NM_000391.4
p.D276V
c.827A>T
1 paper
NM_000391.4
p.D276A
c.827A>C
4 papers
NM_000391.4
p.Q278*
c.832C>T
6 papers
NM_000391.4
p.Q278R
c.833A>G
7 papers
NM_000391.4
p.Q278P
c.833A>C
3 papers
NM_000391.4
p.L275P
c.824T>C
1 paper
NM_000391.4
p.V277_Y279Fs
c.829_836delinsCCTFs
2 papers
NM_000391.4
p.Y279*
c.837C>G
2 papers
NM_000391.4
p.Y279*
c.837C>A
1 paper
NM_000391.4
p.V277_Y279Fs
c.829_837delinsCCTGFs
3 papers
NM_000391.4
p.S274_Y279delFs
c.822_837del16
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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."