Varaico: Literature-Extracted Genetic Variants

Gene:TYSND1
Variant:p.S458L

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
1 paper
NM_173555.4
p.S458L
c.1373C>T
Surrounding Variants
2 papers
NM_173555.4
p.V461M
c.1381G>A
1 paper
NM_173555.4
p.G445C
c.1333G>T
1 paper
NM_173555.4
p.V443A
c.1328T>C
1 paper
NM_173555.4
p.L493H
c.1478T>A
1 paper
NM_173555.4
p.A400V
c.1199C>T
1 paper
NM_173555.4
p.R380_L382del3
c.1138_1145del9
1 paper
NM_173555.4
p.H512Y
c.1534C>T
1 paper
NM_173555.4
p.Q523H
c.1569G>T
1 paper
NM_173555.4
p.Q523H
c.1569G>C
1 paper
NM_173555.4
p.S530N
c.1589G>A
1 paper
NM_173555.4
p.Q531H
c.1593G>T
1 paper
NM_173555.4
p.Q531H
c.1593G>C
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