Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.Q214L

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.Q214L
c.641A>T
Surrounding Variants
3 papers
NM_000391.4
p.Q214*
c.640C>T
1 paper
NM_000391.4
p.D215N
c.643G>A
1 paper
NM_000391.4
p.S213L
c.638C>T
1 paper
NM_000391.4
p.S213*
c.638C>G
1 paper
NM_000391.4
p.S213*
c.638C>A
1 paper
NM_000391.4
p.D215V
c.644A>T
9 papers
NM_000391.4
p.V216M
c.646G>A
6 papers
NM_000391.4
p.T212T
c.636C>T
1 paper
NM_000391.4
p.G217C
c.649G>T
2 papers
NM_000391.4
p.L211*
c.632T>A
3 papers
NM_000391.4
p.G217V
c.650G>T
2 papers
NM_000391.4
p.G217D
c.650G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."