Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.Y403del1

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
2 papers
NM_000199.5
p.Y403del1
c.1207_1209delGTA
Surrounding Variants
1 paper
NM_000199.5
p.V404_S405insFs
c.1212_1215dup4
1 paper
NM_000199.5
p.T407I
c.1220C>T
1 paper
NM_000199.5
p.P406_T407delins
c.1218_1220delinsTAT
1 paper
NM_000199.5
p.Q409R
c.1226A>G
1 paper
NM_000199.5
p.D410G
c.1229A>G
6 papers
NM_000199.5
p.L411R
c.1232T>G
2 papers
NM_000199.5
p.M394I
c.1182G>T
2 papers
NM_000199.5
p.M394I
c.1182G>C
2 papers
NM_000199.5
p.M394I
c.1182G>A
2 papers
NM_000199.5
p.T415P
c.1243A>C
1 paper
NM_000199.5
p.T415I
c.1244C>T
1 paper
NM_000199.5
p.F392delFs
c.1175delA
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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."