Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.R233G

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.R233G
c.697C>G
Surrounding Variants
5 papers
NM_000199.5
p.R233*
c.697C>T
1 paper
NM_000199.5
p.R233Q
c.698G>A
7 papers
NM_000199.5
p.A234G
c.701C>G
1 paper
NM_000199.5
p.D235H
c.703G>C
13 papers
NM_000199.5
p.D235N
c.703G>A
6 papers
NM_000199.5
p.D235V
c.704A>T
2 papers
NM_000199.5
p.P230L
c.689C>T
1 paper
NM_000199.5
p.L236P
c.707T>C
1 paper
NM_000199.5
p.A237D
c.710C>A
6 papers
NM_000199.5
p.P227R
c.680C>G
1 paper
NM_000199.5
p.Q239*
c.715C>T
2 papers
NM_000199.5
p.V226A
c.677T>C
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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."