Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.E36G

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
3 papers
NM_000199.5
p.E36G
c.107A>G
Surrounding Variants
1 paper
NM_000199.5
p.E36V
c.107A>T
1 paper
NM_000199.5
p.E36D
c.108G>T
1 paper
NM_000199.5
p.E36D
c.108G>C
1 paper
NM_000199.5
p.E36Q
c.106G>C
1 paper
NM_000199.5
p.E36K
c.106G>A
1 paper
NM_000199.5
p.S37R
c.109A>C
1 paper
NM_000199.5
p.S37R
c.111T>G
1 paper
NM_000199.5
p.S37R
c.111T>A
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.G34C
c.100G>T
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