Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.M376R

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
3 papers
NM_000199.5
p.M376R
c.1127T>G
Surrounding Variants
1 paper
NM_000199.5
p.M376I
c.1128G>A
21 papers
NM_000199.5
p.R377C
c.1129C>T
6 papers
NM_000199.5
p.R377L
c.1130G>T
20 papers
NM_000199.5
p.R377H
c.1130G>A
2 papers
NM_000199.5
p.S378P
c.1132T>C
2 papers
NM_000199.5
p.Y374Y
c.1122C>T
1 paper
NM_000199.5
p.Y374S
c.1121A>C
5 papers
NM_000199.5
p.Y374H
c.1120T>C
1 paper
NM_000199.5
p.V379fs
c.1135_1136fs
4 papers
NM_000199.5
p.V379delFs
c.1135delC
1 paper
NM_000199.5
p.V379fs
c.1135_1136fs
2 papers
NM_000199.5
p.M372I
c.1116G>T
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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."