Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.L386R

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
7 papers
NM_000199.5
p.L386R
c.1157T>G
Surrounding Variants
1 paper
NM_000199.5
p.L386F
c.1156C>T
7 papers
NM_000199.5
p.V387M
c.1159G>A
1 paper
NM_000199.5
p.V387_H388insFs
c.1161_1162insG
3 papers
NM_000199.5
p.N389S
c.1166A>G
1 paper
NM_000199.5
p.H383delFs
c.1147delG
7 papers
NM_000199.5
p.N389K
c.1167C>G
8 papers
NM_000199.5
p.N389K
c.1167C>A
1 paper
NM_000199.5
p.H383fs
c.1147_1148fs
1 paper
NM_000199.5
p.R382ins2
c.1145_1146ins6
1 paper
NM_000199.5
p.R382W
c.1144C>T
1 paper
NM_000199.5
p.R382ins2
c.1144_1145ins6
1 paper
NM_000199.5
p.R382ins2
c.1144_1145ins6
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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."