Varaico: Literature-Extracted Genetic Variants

Gene:TYSND1

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
1–12 of 43 variants
4 papers
NM_173555.4
p.T65A
c.193A>G
2 papers
NM_173555.4
p.L113P
c.338T>C
2 papers
NM_173555.4
p.L188P
c.563T>C
2 papers
NM_173555.4
p.V461M
c.1381G>A
1 paper
NM_173555.4
p.A12S
c.34G>T
1 paper
NM_173555.4
p.G50R
c.148G>C
1 paper
NM_173555.4
p.G50R
c.148G>A
1 paper
NM_173555.4
p.V70A
c.209T>C
1 paper
NM_173555.4
p.V85L
c.253G>T
1 paper
NM_173555.4
p.V85L
c.253G>C
1 paper
NM_173555.4
p.Q127P
c.380A>C
1 paper
NM_173555.4
p.Q127del1
c.379_380delCTG
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