Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.S92delFs

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.S92delFs
c.274delA
Surrounding Variants
1 paper
NM_000391.4
p.S92fs
c.274_275fs
1 paper
NM_000391.4
p.P91P
c.273A>C
1 paper
NM_000391.4
p.P93P
c.279A>T
1 paper
NM_000391.4
p.L94L
c.280C>T
1 paper
NM_000391.4
p.V89V
c.267G>C
1 paper
NM_000391.4
p.H97_T98insFs
c.291_292insC
4 papers
NM_000391.4
p.T98M
c.293C>T
1 paper
NM_000391.4
p.A86G
c.257C>G
1 paper
NM_000391.4
p.V85L
c.253G>T
1 paper
NM_000391.4
p.V85L
c.253G>C
1 paper
NM_000391.4
p.Q100*
c.298C>T
7 papers
NM_000391.4
p.Q100R
c.299A>G
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