Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.H372Q

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
3 papers
NM_000391.4
p.H372Q
c.1116C>G
Surrounding Variants
3 papers
NM_000391.4
p.H372Q
c.1116C>A
2 papers
NM_000391.4
p.Q373E
c.1117C>G
3 papers
NM_000391.4
p.S369_G370delFs
c.1107_1108delCA
2 papers
NM_000391.4
p.S369delFs
c.1107delA
4 papers
NM_000391.4
p.G370fs
c.1108_1109fs
1 paper
NM_000391.4
p.S369insFs
c.1106dupC
1 paper
NM_000391.4
p.S369S
c.1107T>C
2 papers
NM_000391.4
p.P376S
c.1126C>T
1 paper
NM_000391.4
p.S369F
c.1106C>T
1 paper
NM_000391.4
p.V368del1
c.1102_1103delGAC
1 paper
NM_000391.4
p.W366L
c.1097G>T
1 paper
NM_000391.4
p.W366*
c.1097G>A
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