Varaico: Literature-Extracted Genetic Variants

Gene:TYSND1
Variant:p.L188P

TYSND1

40 papers

RefSeq Summary

This gene encodes a protease that removes the N-terminal peroxisomal targeting signal (PTS2) from proteins produced in the cytosol, thereby facilitating their import into the peroxisome. The encoded p...

Pfam Domains

Trypsin_2aa 357–496UCSCTrypsin-like peptidase domain

Gene Aliases

HGNC Name

trypsin like peroxisomal matrix peptidase 1

HGNC Alias Symbols

MGC34695; NET41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_173555.4
p.L188P
c.563T>C
Surrounding Variants
1 paper
NM_173555.4
p.L179delFs
c.536_537delCA
1 paper
NM_173555.4
p.Q178K
c.532C>A
1 paper
NM_173555.4
p.P203L
c.608C>T
1 paper
NM_173555.4
p.P214P
c.642C>T
1 paper
NM_173555.4
p.G216G
c.648T>C
1 paper
NM_173555.4
p.S239R
c.715A>C
1 paper
NM_173555.4
p.S239R
c.717C>G
1 paper
NM_173555.4
p.S239R
c.717C>A
1 paper
NM_173555.4
p.L135L
c.405G>A
1 paper
NM_173555.4
p.Q127del1
c.379_380delCTG
1 paper
NM_173555.4
p.Q127P
c.380A>C
2 papers
NM_173555.4
p.L113P
c.338T>C
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