Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.Q422_E423Splc

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
3 papers
NM_000391.4
p.Q422_E423Splc
c.1266+5G>A
Surrounding Variants
1 paper
NM_000391.4
p.Q422_E423Splc
c.1266+1G>C
21 papers
NM_000391.4
p.Q422H
c.1266G>T
22 papers
NM_000391.4
p.Q422H
c.1266G>C
1 paper
NM_000391.4
p.Y421N
c.1261T>A
3 papers
NM_000391.4
p.S420*
c.1259C>G
2 papers
NM_000391.4
p.S420*
c.1259C>A
1 paper
NM_000391.4
p.R418R
c.1254G>C
1 paper
NM_000391.4
p.R418Q
c.1253G>A
1 paper
NM_000391.4
p.N414_V415del2
c.1240_1244del6
1 paper
NM_000391.4
p.V415delFs
c.1243delC
5 papers
NM_000391.4
p.N414I
c.1241A>T
2 papers
NM_000391.4
p.S413_N414ins2
c.1239_1240ins6
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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."