Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.D247Y

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.D247Y
c.739G>T
Surrounding Variants
3 papers
NM_000199.5
p.D247H
c.739G>C
1 paper
NM_000199.5
p.D247N
c.739G>A
1 paper
NM_000199.5
p.R245R
c.735C>G
72 papers
NM_000199.5
p.R245H
c.734G>A
1 paper
NM_000199.5
p.G249Splc
c.745+5G>T
2 papers
NM_000199.5
p.T242T
c.726C>T
1 paper
NM_000199.5
p.T242T
c.726C>A
1 paper
NM_000199.5
p.Y240C
c.719A>G
1 paper
NM_000199.5
p.Q239*
c.715C>T
1 paper
NM_000199.5
p.A237D
c.710C>A
1 paper
NM_000199.5
p.L236P
c.707T>C
6 papers
NM_000199.5
p.D235V
c.704A>T
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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."