Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.G485D

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.G485D
c.1454G>A
Surrounding Variants
1 paper
NM_000199.5
p.G485S
c.1453G>A
6 papers
NM_000199.5
p.V486F
c.1456G>T
1 paper
NM_000199.5
p.D484N
c.1450G>A
1 paper
NM_000199.5
p.P483insFs
c.1448_1449insT
2 papers
NM_000199.5
p.D477E
c.1431C>G
2 papers
NM_000199.5
p.D477E
c.1431C>A
1 paper
NM_000199.5
p.D477N
c.1429G>A
2 papers
NM_000199.5
p.C495R
c.1483T>C
1 paper
NM_000199.5
p.Q496*
c.1486C>T
1 paper
NM_000199.5
p.W473*
c.1419G>A
3 papers
NM_000199.5
p.Q472H
c.1416G>T
3 papers
NM_000199.5
p.Q472H
c.1416G>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."