Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.E369A

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.E369A
c.1106A>C
Surrounding Variants
3 papers
NM_000199.5
p.E369*
c.1105G>T
17 papers
NM_000199.5
p.E369K
c.1105G>A
1 paper
NM_000199.5
p.S366delFs
c.1097delC
2 papers
NM_000199.5
p.M372I
c.1116G>T
2 papers
NM_000199.5
p.M372I
c.1116G>C
2 papers
NM_000199.5
p.M372I
c.1116G>A
1 paper
NM_000199.5
p.S366fs
c.1096_1097fs
1 paper
NM_000199.5
p.Q365R
c.1094A>G
3 papers
NM_000199.5
p.Q365P
c.1094A>C
6 papers
NM_000199.5
p.Q365*
c.1093C>T
2 papers
NM_000199.5
p.Q365insFs
c.1093_1094insG
5 papers
NM_000199.5
p.Y374H
c.1120T>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."