Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.S364R

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
5 papers
NM_000199.5
p.S364R
c.1090A>C
Surrounding Variants
1 paper
NM_000199.5
p.G363A
c.1088G>C
6 papers
NM_000199.5
p.S364R
c.1092C>G
5 papers
NM_000199.5
p.S364R
c.1092C>A
6 papers
NM_000199.5
p.Q365*
c.1093C>T
2 papers
NM_000199.5
p.Q365insFs
c.1093_1094insG
1 paper
NM_000199.5
p.Q365R
c.1094A>G
3 papers
NM_000199.5
p.Q365P
c.1094A>C
1 paper
NM_000199.5
p.S366fs
c.1096_1097fs
1 paper
NM_000199.5
p.V361fs
c.1081_1082fs
1 paper
NM_000199.5
p.V361insFs
c.1081_1082insG
1 paper
NM_000199.5
p.V361delFs
c.1081delC
1 paper
NM_000199.5
p.S366delFs
c.1097delC
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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."