Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.P293S

SGSH

309 papers

RefSeq Summary

This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease muco...

Pfam Domains

Sulfataseaa 23–328UCSCSulfatase
SGSH_Caa 400–474UCSCN-sulphoglucosamine sulphohydrolase, C-terminal

Gene Aliases

HGNC Name

N-sulfoglucosamine sulfohydrolase

HGNC Alias Symbols

HSS; MPS3A; SFMD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_000199.5
p.P293S
c.877C>T
Surrounding Variants
3 papers
NM_000199.5
p.P293T
c.877C>A
4 papers
NM_000199.5
p.E292K
c.874G>A
1 paper
NM_000199.5
p.A291S
c.871G>T
2 papers
NM_000199.5
p.A291T
c.871G>A
3 papers
NM_000199.5
p.P288L
c.863C>T
35 papers
NM_000199.5
p.S298P
c.892T>C
3 papers
NM_000199.5
p.P288S
c.862C>T
1 paper
NM_000199.5
p.Y286*
c.858C>G
3 papers
NM_000199.5
p.Y286S
c.857A>C
5 papers
NM_000199.5
p.E300V
c.899A>T
1 paper
NM_000199.5
p.T283I
c.848C>T
1 paper
NM_000199.5
p.K303R
c.908A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."