Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.E395_P396del2

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.E395_P396del2
c.1183_1187del6
Surrounding Variants
1 paper
NM_000391.4
p.F397delFs
c.1190delA
1 paper
NM_000391.4
p.T386_P396Fs
c.1157_1186delinsAFs
1 paper
NM_000391.4
p.E395K
c.1183G>A
1 paper
NM_000391.4
p.F397_L398del2
c.1189_1193del6
1 paper
NM_000391.4
p.F393L
c.1177T>C
1 paper
NM_000391.4
p.S392C
c.1175C>G
4 papers
NM_000391.4
p.E402*
c.1204G>T
2 papers
NM_000391.4
p.E402G
c.1205A>G
1 paper
NM_000391.4
p.I403S
c.1208T>G
1 paper
NM_000391.4
p.V404A
c.1211T>C
9 papers
NM_000391.4
p.G389E
c.1166G>A
1 paper
NM_000391.4
p.V388G
c.1163T>G
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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."