Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.F172Y

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
1 paper
NM_000199.5
p.F172Y
c.515T>A
Surrounding Variants
1 paper
NM_000199.5
p.P170S
c.508C>T
2 papers
NM_000199.5
p.P170A
c.508C>G
1 paper
NM_000199.5
p.P170T
c.508C>A
1 paper
NM_000199.5
p.V175A
c.524T>C
1 paper
NM_000199.5
p.R169W
c.505C>T
1 paper
NM_000199.5
p.R169G
c.505C>G
1 paper
NM_000199.5
p.A176V
c.527C>T
1 paper
NM_000199.5
p.A176D
c.527C>A
1 paper
NM_000199.5
p.H178D
c.532C>G
1 paper
NM_000199.5
p.H178L
c.533A>T
1 paper
NM_000199.5
p.D179H
c.535G>C
8 papers
NM_000199.5
p.D179N
c.535G>A
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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."