Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.I407delFs

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.I407delFs
c.1219_1220delAT
Surrounding Variants
1 paper
NM_000391.4
p.S408I
c.1223G>T
1 paper
NM_000391.4
p.Y406_S408delFs
c.1218_1222del5
1 paper
NM_000391.4
p.I407L
c.1219A>C
1 paper
NM_000391.4
p.Y406*
c.1218T>G
1 paper
NM_000391.4
p.Y406*
c.1218T>A
3 papers
NM_000391.4
p.S408del1
c.1222_1224delACT
1 paper
NM_000391.4
p.Y406C
c.1217A>G
1 paper
NM_000391.4
p.Y406insFs
c.1216dupT
1 paper
NM_000391.4
p.Y406D
c.1216T>G
1 paper
NM_000391.4
p.Y406N
c.1216T>A
2 papers
NM_000391.4
p.G409V
c.1226G>T
2 papers
NM_000391.4
p.G409D
c.1226G>A
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