Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.Q338E

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.Q338E
c.1012C>G
Surrounding Variants
9 papers
NM_000391.4
p.R339W
c.1015C>T
15 papers
NM_000391.4
p.R339Q
c.1016G>A
1 paper
NM_000391.4
p.T342P
c.1024A>C
9 papers
NM_000391.4
p.E343K
c.1027G>A
1 paper
NM_000391.4
p.S333C
c.997A>T
3 papers
NM_000391.4
p.E343D
c.1029G>T
4 papers
NM_000391.4
p.E343D
c.1029G>C
1 paper
NM_000391.4
p.E329_S331delFs
c.986_993del8
1 paper
NM_000391.4
p.L344R
c.1031T>G
1 paper
NM_000391.4
p.S331ins1
c.992_993insCTC
4 papers
NM_000391.4
p.M345L
c.1033A>T
4 papers
NM_000391.4
p.M345L
c.1033A>C
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