Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.E129_T130insFs

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.E129_T130insFs
c.387_388insG
Surrounding Variants
1 paper
NM_000199.5
p.T130N
c.389C>A
1 paper
NM_000199.5
p.T130T
c.390C>T
6 papers
NM_000199.5
p.V131M
c.391G>A
11 papers
NM_000199.5
p.P128L
c.383C>T
1 paper
NM_000199.5
p.P128S
c.382C>T
1 paper
NM_000199.5
p.Y132S
c.395A>C
1 paper
NM_000199.5
p.G127V
c.380G>T
1 paper
NM_000199.5
p.G127E
c.380G>A
1 paper
NM_000199.5
p.G127W
c.379G>T
1 paper
NM_000199.5
p.G127R
c.379G>C
1 paper
NM_000199.5
p.G127R
c.379G>A
1 paper
NM_000199.5
p.P133_F134insA
c.397_401ins3
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