Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.G191R

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
8 papers
NM_000199.5
p.G191R
c.571G>C
Surrounding Variants
8 papers
NM_000199.5
p.G191R
c.571G>A
1 paper
NM_000199.5
p.T192I
c.575C>T
1 paper
NM_000199.5
p.T192N
c.575C>A
1 paper
NM_000199.5
p.Q189R
c.566A>G
6 papers
NM_000199.5
p.F193L
c.577T>C
1 paper
NM_000199.5
p.F193S
c.578T>C
6 papers
NM_000199.5
p.F193L
c.579C>G
6 papers
NM_000199.5
p.F193L
c.579C>A
1 paper
NM_000199.5
p.P188A
c.562C>G
1 paper
NM_000199.5
p.E195D
c.585G>C
1 paper
NM_000199.5
p.K196E
c.586A>G
1 paper
NM_000199.5
p.H185R
c.554A>G
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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."