Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.R150W

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
7 papers
NM_000199.5
p.R150W
c.448C>T
Surrounding Variants
1 paper
NM_000199.5
p.R150G
c.448C>G
11 papers
NM_000199.5
p.R150Q
c.449G>A
1 paper
NM_000199.5
p.G149W
c.445G>T
1 paper
NM_000199.5
p.G149R
c.445G>C
1 paper
NM_000199.5
p.N151H
c.451A>C
1 paper
NM_000199.5
p.N151S
c.452A>G
1 paper
NM_000199.5
p.I152S
c.455T>G
1 paper
NM_000199.5
p.I152M
c.456C>G
1 paper
NM_000199.5
p.T153P
c.457A>C
9 papers
NM_000199.5
p.L146P
c.437T>C
1 paper
NM_000199.5
p.I155F
c.463A>T
1 paper
NM_000199.5
p.G143R
c.427G>C
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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."