Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.R447H

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
41 papers
NM_000391.4
p.R447H
c.1340G>A
Surrounding Variants
2 papers
NM_000391.4
p.R447P
c.1340G>C
1 paper
NM_000391.4
p.A448V
c.1343C>T
2 papers
NM_000391.4
p.A448D
c.1343C>A
1 paper
NM_000391.4
p.A448insFs
c.1344dupC
1 paper
NM_000391.4
p.S445_A448ins1
c.1333_1344dup12
1 paper
NM_000391.4
p.S445R
c.1335T>A
1 paper
NM_000391.4
p.A448delFs
c.1344delG
1 paper
NM_000391.4
p.Y449fs
c.1345_1346fs
1 paper
NM_000391.4
p.D451Y
c.1351G>T
2 papers
NM_000391.4
p.N443S
c.1328A>G
1 paper
NM_000391.4
p.V452M
c.1354G>A
6 papers
NM_000391.4
p.A453V
c.1358C>T
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."