Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.R297W

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.R297W
c.889C>T
Surrounding Variants
5 papers
NM_000391.4
p.G296D
c.887G>A
2 papers
NM_000391.4
p.H298fs
c.892_893fs
21 papers
NM_000391.4
p.G296Splc
c.887-10A>G
1 paper
NM_000391.4
p.E302K
c.904G>A
6 papers
NM_000391.4
p.G296Splc
c.887-18A>G
1 paper
NM_000391.4
p.Q306*
c.916C>T
2 papers
NM_000391.4
p.W307L
c.920G>T
2 papers
NM_000391.4
p.W307*
c.920G>A
2 papers
NM_000391.4
p.W307*
c.921G>A
1 paper
NM_000391.4
p.L308P
c.923T>C
1 paper
NM_000391.4
p.S312N
c.935G>A
1 paper
NM_000391.4
p.H319fs
c.955_956fs
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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."