Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.T427delFs

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.T427delFs
c.1279delT
Surrounding Variants
2 papers
NM_000391.4
p.T427M
c.1280C>T
3 papers
NM_000391.4
p.K428N
c.1284G>T
3 papers
NM_000391.4
p.K428N
c.1284G>C
1 paper
NM_000391.4
p.L430P
c.1289T>C
1 paper
NM_000391.4
p.S433insFs
c.1298_1299insC
1 paper
NM_000391.4
p.S431_S432del2
c.1291_1295del6
1 paper
NM_000391.4
p.H435N
c.1303C>A
1 paper
NM_000391.4
p.P438T
c.1312C>A
1 paper
NM_000391.4
p.S439P
c.1315T>C
2 papers
NM_000391.4
p.N443S
c.1328A>G
1 paper
NM_000391.4
p.S445R
c.1335T>A
2 papers
NM_000391.4
p.R447P
c.1340G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."