Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.G458A

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.G458A
c.1373G>C
Surrounding Variants
3 papers
NM_000391.4
p.Y459S
c.1376A>C
1 paper
NM_000391.4
p.W460L
c.1379G>T
6 papers
NM_000391.4
p.W460*
c.1379G>A
1 paper
NM_000391.4
p.S456Y
c.1367C>A
5 papers
NM_000391.4
p.W460*
c.1380G>A
1 paper
NM_000391.4
p.V461E
c.1382T>A
8 papers
NM_000391.4
p.A454E
c.1361C>A
6 papers
NM_000391.4
p.A453V
c.1358C>T
3 papers
NM_000391.4
p.A453D
c.1358C>A
1 paper
NM_000391.4
p.V461_S463del3
c.1381_1388del9
1 paper
NM_000391.4
p.V452M
c.1354G>A
1 paper
NM_000391.4
p.R465G
c.1393A>G
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."