Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.D440G

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.D440G
c.1319A>G
Surrounding Variants
1 paper
NM_000199.5
p.R443W
c.1327C>T
1 paper
NM_000199.5
p.D444N
c.1330G>A
10 papers
NM_000199.5
p.D444G
c.1331A>G
1 paper
NM_000199.5
p.R435C
c.1303C>T
1 paper
NM_000199.5
p.H446R
c.1337A>G
25 papers
NM_000199.5
p.E447K
c.1339G>A
15 papers
NM_000199.5
p.R433Q
c.1298G>A
14 papers
NM_000199.5
p.R433W
c.1297C>T
1 paper
NM_000199.5
p.Y432C
c.1295A>G
1 paper
NM_000199.5
p.H429insFs
c.1285_1286insT
1 paper
NM_000199.5
p.Y424_R428delFs
c.1272_1282del11
1 paper
NM_000199.5
p.D426insFs
c.1277_1278ins4
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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."