Varaico: Literature-Extracted Genetic Variants

Gene:TYSND1
Variant:p.H512Y

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.H512Y
c.1534C>T
Surrounding Variants
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
1 paper
NM_173555.4
p.G536_G537del2
c.1606_1610del6
1 paper
NM_173555.4
p.R543C
c.1627C>T
1 paper
NM_173555.4
p.R549insFs
c.1645dupA
1 paper
NM_173555.4
p.R549fs
c.1645_1646fs
1 paper
NM_173555.4
p.V550fs
c.1648_1649fs
1 paper
NM_173555.4
p.R549_Q555delFs
c.1647_1663del17
1 paper
NM_173555.4
p.L558P
c.1673T>C
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