Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.I322S

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
11 papers
NM_000199.5
p.I322S
c.965T>G
Surrounding Variants
1 paper
NM_000199.5
p.I322N
c.965T>A
6 papers
NM_000199.5
p.T321A
c.961A>G
2 papers
NM_000199.5
p.F326C
c.977T>G
1 paper
NM_000199.5
p.L318R
c.953T>G
1 paper
NM_000199.5
p.L318H
c.953T>A
1 paper
NM_000199.5
p.S327L
c.980C>T
2 papers
NM_000199.5
p.D317fs
c.949_950fs
2 papers
NM_000199.5
p.D317H
c.949G>C
1 paper
NM_000199.5
p.Y333C
c.998A>G
1 paper
NM_000199.5
p.A334T
c.1000G>A
1 paper
NM_000199.5
p.S338L
c.1013C>T
1 paper
NM_000199.5
p.H342R
c.1025A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."