Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.S408del1

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.S408del1
c.1222_1224delACT
Surrounding Variants
2 papers
NM_000391.4
p.G409V
c.1226G>T
2 papers
NM_000391.4
p.G409D
c.1226G>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
1 paper
NM_000391.4
p.S408I
c.1223G>T
1 paper
NM_000391.4
p.Y406_S408delFs
c.1218_1222del5
1 paper
NM_000391.4
p.G410S
c.1228G>A
1 paper
NM_000391.4
p.I407delFs
c.1219_1220delAT
1 paper
NM_000391.4
p.G411S
c.1231G>A
1 paper
NM_000391.4
p.I407L
c.1219A>C
1 paper
NM_000391.4
p.Y406*
c.1218T>G
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