Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.S413_N414ins2

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.S413_N414ins2
c.1237_1241ins6
Surrounding Variants
2 papers
NM_000391.4
p.S413_N414ins2
c.1239_1240ins6
1 paper
NM_000391.4
p.G411ins0
c.1231_1233dupGGC
1 paper
NM_000391.4
p.F412L
c.1234T>C
5 papers
NM_000391.4
p.N414I
c.1241A>T
1 paper
NM_000391.4
p.G411S
c.1231G>A
1 paper
NM_000391.4
p.V415delFs
c.1243delC
1 paper
NM_000391.4
p.N414_V415del2
c.1240_1244del6
1 paper
NM_000391.4
p.G410S
c.1228G>A
1 paper
NM_000391.4
p.G409fs
c.1225_1226fs
1 paper
NM_000391.4
p.G409G
c.1227T>C
1 paper
NM_000391.4
p.G409delFs
c.1226delC
2 papers
NM_000391.4
p.G409V
c.1226G>T
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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."