Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.K207R

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.K207R
c.620A>G
Surrounding Variants
1 paper
NM_000391.4
p.K207delFs
c.619delT
1 paper
NM_000391.4
p.K207fs
c.619_620fs
1 paper
NM_000391.4
p.V200_R206del7
c.598_617del21
138 papers
NM_000391.4
p.R208*
c.622C>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
7 papers
NM_000391.4
p.R206H
c.617G>A
4 papers
NM_000391.4
p.R208Q
c.623G>A
17 papers
NM_000391.4
p.R206C
c.616C>T
2 papers
NM_000391.4
p.Y209H
c.625T>C
1 paper
NM_000391.4
p.N210S
c.629A>G
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