Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.D360A

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
2 papers
NM_000391.4
p.D360A
c.1079A>C
Surrounding Variants
1 paper
NM_000391.4
p.D360E
c.1080C>G
2 papers
NM_000391.4
p.D360E
c.1080C>A
3 papers
NM_000391.4
p.G359Splc
c.1076-2A>T
2 papers
NM_000391.4
p.G359Splc
c.1076-2A>G
1 paper
NM_000391.4
p.A363T
c.1087G>A
1 paper
NM_000391.4
p.G364E
c.1091G>A
1 paper
NM_000391.4
p.G364G
c.1092G>A
11 papers
NM_000391.4
p.C365R
c.1093T>C
22 papers
NM_000391.4
p.C365Y
c.1094G>A
1 paper
NM_000391.4
p.W366L
c.1097G>T
1 paper
NM_000391.4
p.W366*
c.1097G>A
1 paper
NM_000391.4
p.V368del1
c.1102_1103delGAC
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