Varaico: Literature-Extracted Genetic Variants

Gene:TYSND1
Variant:p.H315Y

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.H315Y
c.943C>T
Surrounding Variants
1 paper
NM_173555.4
p.L320V
c.958C>G
1 paper
NM_173555.4
p.A272E
c.815C>A
1 paper
NM_173555.4
p.R380_L382del3
c.1138_1145del9
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.S239R
c.715A>C
1 paper
NM_173555.4
p.G216G
c.648T>C
1 paper
NM_173555.4
p.P214P
c.642C>T
1 paper
NM_173555.4
p.P203L
c.608C>T
2 papers
NM_173555.4
p.L188P
c.563T>C
1 paper
NM_173555.4
p.L179delFs
c.536_537delCA
1 paper
NM_173555.4
p.Q178K
c.532C>A
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