Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.T211P

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.T211P
c.631A>C
Surrounding Variants
1 paper
NM_000199.5
p.W210C
c.630G>T
1 paper
NM_000199.5
p.W210C
c.630G>C
4 papers
NM_000199.5
p.W210*
c.630G>A
5 papers
NM_000199.5
p.W210*
c.629G>A
1 paper
NM_000199.5
p.Q213R
c.638A>G
1 paper
NM_000199.5
p.P212delFs
c.634delG
1 paper
NM_000199.5
p.T211_A214del4
c.631_641del12
22 papers
NM_000199.5
p.R206P
c.617G>C
1 paper
NM_000199.5
p.R206H
c.617G>A
1 paper
NM_000199.5
p.R206C
c.616C>T
1 paper
NM_000199.5
p.G205V
c.614G>T
1 paper
NM_000199.5
p.G205D
c.614G>A
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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."