Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.S66W

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
44 papers
NM_000199.5
p.S66W
c.197C>G
Surrounding Variants
1 paper
NM_000199.5
p.T65I
c.194C>T
1 paper
NM_000199.5
p.T65S
c.194C>G
1 paper
NM_000199.5
p.S68R
c.202A>C
2 papers
NM_000199.5
p.N62_F64delFs
c.184_190del7
1 paper
NM_000199.5
p.S68T
c.203G>C
1 paper
NM_000199.5
p.S68N
c.203G>A
1 paper
NM_000199.5
p.S68R
c.204C>G
1 paper
NM_000199.5
p.S68R
c.204C>A
1 paper
NM_000199.5
p.C70S
c.208T>A
1 paper
NM_000199.5
p.C70S
c.209G>C
2 papers
NM_000199.5
p.R61C
c.181C>T
1 paper
NM_000199.5
p.R61G
c.181C>G
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