Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.L460insFs

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.L460insFs
c.1378_1379insC
Surrounding Variants
1 paper
NM_000199.5
p.E462V
c.1385A>T
1 paper
NM_000199.5
p.L464F
c.1390C>T
1 paper
NM_000199.5
p.L464insFs
c.1390_1391insA
19 papers
NM_000199.5
p.R456H
c.1367G>A
3 papers
NM_000199.5
p.Q472H
c.1416G>T
3 papers
NM_000199.5
p.Q472H
c.1416G>C
25 papers
NM_000199.5
p.E447K
c.1339G>A
1 paper
NM_000199.5
p.W473*
c.1419G>A
1 paper
NM_000199.5
p.H446R
c.1337A>G
10 papers
NM_000199.5
p.D444G
c.1331A>G
1 paper
NM_000199.5
p.D444N
c.1330G>A
1 paper
NM_000199.5
p.D477N
c.1429G>A
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