Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.G77R

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
19 papers
NM_000391.4
p.G77R
c.229G>C
Surrounding Variants
3 papers
NM_000391.4
p.G77*
c.229G>T
16 papers
NM_000391.4
p.G77R
c.229G>A
1 paper
NM_000391.4
p.G77Splc
c.230-2A>G
1 paper
NM_000391.4
p.G77Splc
c.230-3C>G
2 papers
NM_000391.4
p.K78E
c.232A>G
1 paper
NM_000391.4
p.Y79C
c.236A>G
1 paper
NM_000391.4
p.Y79*
c.237C>G
1 paper
NM_000391.4
p.Y79*
c.237C>A
1 paper
NM_000391.4
p.E83K
c.247G>A
1 paper
NM_000391.4
p.E83G
c.248A>G
1 paper
NM_000391.4
p.V85L
c.253G>T
1 paper
NM_000391.4
p.V85L
c.253G>C
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