Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.F225L

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
2 papers
NM_000199.5
p.F225L
c.673T>C
Surrounding Variants
2 papers
NM_000199.5
p.Y224*
c.672C>G
2 papers
NM_000199.5
p.Y224*
c.672C>A
2 papers
NM_000199.5
p.F225L
c.675C>G
2 papers
NM_000199.5
p.F225L
c.675C>A
2 papers
NM_000199.5
p.V226A
c.677T>C
6 papers
NM_000199.5
p.P227R
c.680C>G
1 paper
NM_000199.5
p.L221_V222Splc
c.664-2A>G
2 papers
NM_000199.5
p.P230L
c.689C>T
5 papers
NM_000199.5
p.R233*
c.697C>T
1 paper
NM_000199.5
p.R233G
c.697C>G
1 paper
NM_000199.5
p.R233Q
c.698G>A
7 papers
NM_000199.5
p.A234G
c.701C>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."