Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.Y40N

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
7 papers
NM_000199.5
p.Y40N
c.118T>A
Surrounding Variants
1 paper
NM_000199.5
p.Y40S
c.119A>C
1 paper
NM_000199.5
p.Y40*
c.120C>G
1 paper
NM_000199.5
p.Y40*
c.120C>A
1 paper
NM_000199.5
p.A39P
c.115G>C
1 paper
NM_000199.5
p.N41I
c.122A>T
1 paper
NM_000199.5
p.N41S
c.122A>G
1 paper
NM_000199.5
p.S37R
c.111T>G
1 paper
NM_000199.5
p.S37R
c.111T>A
5 papers
NM_000199.5
p.N42K
c.126C>G
5 papers
NM_000199.5
p.N42K
c.126C>A
1 paper
NM_000199.5
p.S43C
c.127A>T
1 paper
NM_000199.5
p.S37R
c.109A>C
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