Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SGSH

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 490 variants

72 papers

chr17:80213815 C>T

NM_000199.5

p.R245H

c.734G>A

Sulfatase

Exome: 0.1% (AC=771, hom=0)Genome: 0.0% (AC=59, hom=0)5 overlapping SVs

56 papers

chr17:80217061 G>A

NM_000199.5

p.R74C

c.220C>T

Sulfatase

Exome: 0.0% (AC=309, hom=0)Genome: 0.0% (AC=31, hom=0)4 overlapping SVs

44 papers

chr17:80217084 G>C

NM_000199.5

p.S66W

c.197C>G

Sulfatase

Exome: 0.0% (AC=233, hom=0)Genome: 0.0% (AC=16, hom=0)4 overlapping SVs

35 papers

chr17:80212128 A>G

NM_000199.5

p.S298P

c.892T>C

Sulfatase

Exome: 0.0% (AC=266, hom=0)Genome: 0.0% (AC=23, hom=0)4 overlapping SVs

25 papers

chr17:80217190 C>T

NM_000199.5

p.D31N

c.91G>A

Sulfatase

Exome: 0.0% (AC=2, hom=0)Genome: n/a4 overlapping SVs

25 papers

chr17:80210622 C>T

NM_000199.5

p.E447K

c.1339G>A

SGSH_C

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=4, hom=0)4 overlapping SVs

22 papers

chr17:80214218 C>G

NM_000199.5

p.R206P

c.617G>C

Sulfatase

exact variant not in gnomAD5 overlapping SVs

21 papers

chr17:80210832 G>A

NM_000199.5

p.R377C

c.1129C>T

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=1, hom=0)4 overlapping SVs

20 papers

chr17:80210831 C>T

NM_000199.5

p.R377H

c.1130G>A

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=1, hom=0)4 overlapping SVs

20 papers

chr17:80210822 T>C

NM_000199.5

p.Q380R

c.1139A>G

Exome: 0.0% (AC=136, hom=0)Genome: 0.0% (AC=3, hom=0)4 overlapping SVs

19 papers

chr17:80210594 C>T

NM_000199.5

p.R456H

c.1367G>A

SGSH_C

Exome: 33.9% (AC=495325, hom=85775)Genome: 31.6% (AC=48039, hom=7950)4 overlapping SVs

18 papers

chr17:80214757 C>T

NM_000199.5

p.G122R

c.364G>A

Sulfatase

Exome: 0.0% (AC=24, hom=0)Genome: n/a5 overlapping SVs

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."