Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.N210S

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.N210S
c.629A>G
Surrounding Variants
1 paper
NM_000391.4
p.N210N
c.630C>T
2 papers
NM_000391.4
p.L211*
c.632T>A
2 papers
NM_000391.4
p.Y209H
c.625T>C
4 papers
NM_000391.4
p.R208Q
c.623G>A
138 papers
NM_000391.4
p.R208*
c.622C>T
6 papers
NM_000391.4
p.T212T
c.636C>T
1 paper
NM_000391.4
p.K207_R208insFs
c.621_622insG
1 paper
NM_000391.4
p.R206_K207delFs
c.617_620del4
1 paper
NM_000391.4
p.R208fs
c.622_623fs
1 paper
NM_000391.4
p.K207delFs
c.619delT
1 paper
NM_000391.4
p.S213L
c.638C>T
1 paper
NM_000391.4
p.S213*
c.638C>G
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