Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.V277_Y279Fs

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.V277_Y279Fs
c.829_837delinsCCTGFs
Surrounding Variants
2 papers
NM_000391.4
p.Y279*
c.837C>G
2 papers
NM_000391.4
p.Y279*
c.837C>A
3 papers
NM_000391.4
p.S274_Y279delFs
c.822_837del16
1 paper
NM_000391.4
p.V277_Y279Fs
c.829_836delinsCCTFs
6 papers
NM_000391.4
p.Q278R
c.833A>G
7 papers
NM_000391.4
p.Q278P
c.833A>C
1 paper
NM_000391.4
p.Y279delins
c.837delinsCCTG
4 papers
NM_000391.4
p.Q278*
c.832C>T
1 paper
NM_000391.4
p.M281I
c.843G>T
1 paper
NM_000391.4
p.M281I
c.843G>C
1 paper
NM_000391.4
p.M281I
c.843G>A
6 papers
NM_000391.4
p.V277M
c.829G>A
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