Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.A137T

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.A137T
c.409G>A
Surrounding Variants
1 paper
NM_000199.5
p.F136L
c.408T>G
1 paper
NM_000199.5
p.F136L
c.408T>A
1 paper
NM_000199.5
p.F136C
c.407T>G
1 paper
NM_000199.5
p.F136S
c.407T>C
1 paper
NM_000199.5
p.F136V
c.406T>G
1 paper
NM_000199.5
p.F136L
c.406T>C
1 paper
NM_000199.5
p.F136I
c.406T>A
8 papers
NM_000199.5
p.T139M
c.416C>T
1 paper
NM_000199.5
p.T139R
c.416C>G
1 paper
NM_000199.5
p.E140K
c.418G>A
1 paper
NM_000199.5
p.P133delFs
c.398delG
1 paper
NM_000199.5
p.P133L
c.398C>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."