Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.S338L

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.S338L
c.1013C>T
Surrounding Variants
1 paper
NM_000199.5
p.H342R
c.1025A>G
1 paper
NM_000199.5
p.A334T
c.1000G>A
5 papers
NM_000199.5
p.L343insFs
c.1027_1028insC
1 paper
NM_000199.5
p.Y333C
c.998A>G
1 paper
NM_000199.5
p.L343_T344insFs
c.1029_1030insT
1 paper
NM_000199.5
p.R346G
c.1036C>G
1 paper
NM_000199.5
p.R346L
c.1037G>T
4 papers
NM_000199.5
p.S347insFs
c.1039_1040insC
11 papers
NM_000199.5
p.S347F
c.1040C>T
1 paper
NM_000199.5
p.S347insFs
c.1040_1041insT
3 papers
NM_000199.5
p.S347Y
c.1040C>A
1 paper
NM_000199.5
p.L348R
c.1043T>G
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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."