Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.W123delFs

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.W123delFs
c.368delC
Surrounding Variants
1 paper
NM_000391.4
p.L124L
c.372G>A
1 paper
NM_000391.4
p.W123*
c.368G>A
1 paper
NM_000391.4
p.S125C
c.373A>T
1 paper
NM_000391.4
p.I126fs
c.376_377fs
17 papers
NM_000391.4
p.R127*
c.379C>T
10 papers
NM_000391.4
p.R127Q
c.380G>A
1 paper
NM_000391.4
p.I126_R127delFs
c.376_380del5
3 papers
NM_000391.4
p.L120fs
c.358_359fs
3 papers
NM_000391.4
p.F119insFs
c.357dupT
2 papers
NM_000391.4
p.R127Splc
c.380+5G>A
1 paper
NM_000391.4
p.I115T
c.344T>C
1 paper
NM_000391.4
p.V114M
c.340G>A
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