Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.A226V

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.A226V
c.677C>T
Surrounding Variants
1 paper
NM_000391.4
p.C227R
c.679T>C
1 paper
NM_000391.4
p.G217_S224del0
c.651_671del21
2 papers
NM_000391.4
p.Q229L
c.686A>T
1 paper
NM_000391.4
p.Q229_F230Splc
c.687+2T>G
1 paper
NM_000391.4
p.N222S
c.665A>G
3 papers
NM_000391.4
p.G217V
c.650G>T
2 papers
NM_000391.4
p.G217D
c.650G>A
1 paper
NM_000391.4
p.G217C
c.649G>T
9 papers
NM_000391.4
p.V216M
c.646G>A
1 paper
NM_000391.4
p.D215V
c.644A>T
1 paper
NM_000391.4
p.D215N
c.643G>A
1 paper
NM_000391.4
p.Q214L
c.641A>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."