Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.Q100H

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.Q100H
c.300A>C
Surrounding Variants
1 paper
NM_000391.4
p.Q100H
c.300A>T
7 papers
NM_000391.4
p.Q100R
c.299A>G
1 paper
NM_000391.4
p.Q100*
c.298C>T
1 paper
NM_000391.4
p.W102*
c.305G>A
4 papers
NM_000391.4
p.T98M
c.293C>T
1 paper
NM_000391.4
p.H97_T98insFs
c.291_292insC
10 papers
NM_000391.4
p.L104*
c.311T>A
1 paper
NM_000391.4
p.A105V
c.314C>T
1 paper
NM_000391.4
p.A105G
c.314C>G
1 paper
NM_000391.4
p.A106insFs
c.316_317insC
1 paper
NM_000391.4
p.A106fs
c.316_317fs
1 paper
NM_000391.4
p.A106insFs
c.316dupG
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