Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.G34S

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.G34S
c.100G>A
Surrounding Variants
1 paper
NM_000199.5
p.G34C
c.100G>T
1 paper
NM_000199.5
p.G34R
c.100G>C
1 paper
NM_000199.5
p.G34V
c.101G>T
1 paper
NM_000199.5
p.G34A
c.101G>C
1 paper
NM_000199.5
p.G34D
c.101G>A
1 paper
NM_000199.5
p.G33*
c.97G>T
1 paper
NM_000199.5
p.G33_G34insC
c.97_101ins3
3 papers
NM_000199.5
p.G33R
c.97G>C
3 papers
NM_000199.5
p.G33R
c.97G>A
3 papers
NM_000199.5
p.D32E
c.96C>G
3 papers
NM_000199.5
p.D32E
c.96C>A
8 papers
NM_000199.5
p.D32G
c.95A>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."