Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.S113fs

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
2 papers
NM_000391.4
p.S113fs
c.337_338fs
Surrounding Variants
2 papers
NM_000391.4
p.S113insFs
c.337dupT
1 paper
NM_000391.4
p.H112P
c.335A>C
1 paper
NM_000391.4
p.V114M
c.340G>A
1 paper
NM_000391.4
p.H112Y
c.334C>T
1 paper
NM_000391.4
p.I115T
c.344T>C
1 paper
NM_000391.4
p.K110R
c.329A>G
13 papers
NM_000391.4
p.Q109delFs
c.325delG
1 paper
NM_000391.4
p.A108V
c.323C>T
1 paper
NM_000391.4
p.A108T
c.322G>A
3 papers
NM_000391.4
p.A108fs
c.322_323fs
1 paper
NM_000391.4
p.G107R
c.319G>C
1 paper
NM_000391.4
p.G107R
c.319G>A
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