Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.L354P

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
3 papers
NM_000391.4
p.L354P
c.1061T>C
Surrounding Variants
2 papers
NM_000391.4
p.L355fs
c.1063_1064fs
3 papers
NM_000391.4
p.L354delFs
c.1062delC
5 papers
NM_000391.4
p.L355P
c.1064T>C
1 paper
NM_000391.4
p.T353I
c.1058C>T
3 papers
NM_000391.4
p.T353N
c.1058C>A
8 papers
NM_000391.4
p.T353P
c.1057A>C
1 paper
NM_000391.4
p.A357_S358insT
c.1069_1073ins3
3 papers
NM_000391.4
p.G351V
c.1052G>T
2 papers
NM_000391.4
p.A357insFs
c.1071dupC
2 papers
NM_000391.4
p.R350Q
c.1049G>A
8 papers
NM_000391.4
p.R350W
c.1048C>T
1 paper
NM_000391.4
p.A357_S358delFs
c.1071_1072delAG
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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."