Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.A260A

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.A260A
c.780C>T
Surrounding Variants
1 paper
NM_000199.5
p.G261D
c.782G>A
1 paper
NM_000199.5
p.Q255delFs
c.763delG
8 papers
NM_000199.5
p.G251A
c.752G>C
1 paper
NM_000199.5
p.V250F
c.748G>T
3 papers
NM_000199.5
p.T271M
c.812C>T
6 papers
NM_000199.5
p.G249E
c.746G>A
6 papers
NM_000199.5
p.D273N
c.817G>A
1 paper
NM_000199.5
p.D273delFs
c.817_818delTC
3 papers
NM_000199.5
p.N274D
c.820A>G
3 papers
NM_000199.5
p.G275R
c.823G>C
3 papers
NM_000199.5
p.G275R
c.823G>A
1 paper
NM_000199.5
p.P277S
c.829C>T
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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."