Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.R185C

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.R185C
c.553C>T
Surrounding Variants
1 paper
NM_000391.4
p.Q184delFs
c.552delT
1 paper
NM_000391.4
p.Q184_R185del2
c.550_554del6
1 paper
NM_000391.4
p.L182delFs
c.544_545delAG
1 paper
NM_000391.4
p.L182fs
c.544_545fs
1 paper
NM_000391.4
p.P188S
c.562C>T
2 papers
NM_000391.4
p.F176_S181del6
c.526_542del18
4 papers
NM_000391.4
p.P177_S180del4
c.529_539del12
3 papers
NM_000391.4
p.Q189*
c.565C>T
2 papers
NM_000391.4
p.S180_S181insA
c.538_542ins3
2 papers
NM_000391.4
p.S180_S181insCA
c.538_542ins6
1 paper
NM_000391.4
p.V190insFs
c.569_570insC
2 papers
NM_000391.4
p.P178fs
c.532_533fs
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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."