Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.D426insFs

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.D426insFs
c.1277_1278ins4
Surrounding Variants
1 paper
NM_000199.5
p.K425R
c.1274A>G
1 paper
NM_000199.5
p.Y424_R428delFs
c.1272_1282del11
1 paper
NM_000199.5
p.H429insFs
c.1285_1286insT
6 papers
NM_000199.5
p.T421R
c.1262C>G
1 paper
NM_000199.5
p.Y432C
c.1295A>G
14 papers
NM_000199.5
p.R433W
c.1297C>T
15 papers
NM_000199.5
p.R433Q
c.1298G>A
1 paper
NM_000199.5
p.G418D
c.1253G>A
1 paper
NM_000199.5
p.R435C
c.1303C>T
1 paper
NM_000199.5
p.T415I
c.1244C>T
2 papers
NM_000199.5
p.T415P
c.1243A>C
1 paper
NM_000199.5
p.D440G
c.1319A>G
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