Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.D179V

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.D179V
c.536A>T
Surrounding Variants
1 paper
NM_000199.5
p.D179A
c.536A>C
1 paper
NM_000199.5
p.D179H
c.535G>C
8 papers
NM_000199.5
p.D179N
c.535G>A
1 paper
NM_000199.5
p.D179E
c.537C>G
1 paper
NM_000199.5
p.D179E
c.537C>A
4 papers
NM_000199.5
p.P180L
c.539C>T
1 paper
NM_000199.5
p.H178L
c.533A>T
1 paper
NM_000199.5
p.H178D
c.532C>G
1 paper
NM_000199.5
p.H181R
c.542A>G
10 papers
NM_000199.5
p.R182C
c.544C>T
1 paper
NM_000199.5
p.R182G
c.544C>G
1 paper
NM_000199.5
p.V175_H181del0
c.523_543del21
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."