Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.V126M

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
2 papers
NM_000199.5
p.V126M
c.376G>A
Surrounding Variants
1 paper
NM_000199.5
p.V126L
c.376G>T
3 papers
NM_000199.5
p.V126insFs
c.376_377insG
1 paper
NM_000199.5
p.H125Q
c.375C>G
1 paper
NM_000199.5
p.H125Q
c.375C>A
1 paper
NM_000199.5
p.V126V
c.378G>T
1 paper
NM_000199.5
p.V126fs
c.376_377fs
1 paper
NM_000199.5
p.H125L
c.374A>T
1 paper
NM_000199.5
p.H125R
c.374A>G
1 paper
NM_000199.5
p.H125P
c.374A>C
1 paper
NM_000199.5
p.G127W
c.379G>T
1 paper
NM_000199.5
p.G127R
c.379G>C
1 paper
NM_000199.5
p.G127R
c.379G>A
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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."