Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.V361delFs

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.V361delFs
c.1081delC
Surrounding Variants
1 paper
NM_000199.5
p.V361insFs
c.1081_1082insG
6 papers
NM_000199.5
p.V361I
c.1081G>A
13 papers
NM_000199.5
p.T360delFs
c.1079delG
1 paper
NM_000199.5
p.V361fs
c.1081_1082fs
3 papers
NM_000199.5
p.V361fs
c.1081_1082fs
1 paper
NM_000199.5
p.G363A
c.1088G>C
2 papers
NM_000199.5
p.A359T
c.1075G>A
5 papers
NM_000199.5
p.S364R
c.1090A>C
6 papers
NM_000199.5
p.S364R
c.1092C>G
5 papers
NM_000199.5
p.S364R
c.1092C>A
6 papers
NM_000199.5
p.Q365*
c.1093C>T
2 papers
NM_000199.5
p.Q365insFs
c.1093_1094insG
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