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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HS3ST1

Variant:p.P226P

HS3ST1

35 papers

RefSeq Summary

Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene ...

Pfam Domains

Sulfotransfer_1aa 54–298UCSCSulfotransferase domain

Gene Aliases

HGNC Name

heparan sulfate-glucosamine 3-sulfotransferase 1

HGNC Alias Symbol

3OST1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr4:11399328 A>C

NM_005114.4

p.P226P

c.678T>G

Sulfotransfer_1

Exome: 0.0% (AC=63, hom=0)Genome: n/a29 overlapping SVs

Surrounding Variants

1 paper

chr4:11399350 C>T

NM_005114.4

p.R219H

c.656G>A

Sulfotransfer_1

Exome: 0.0% (AC=44, hom=0)Genome: 0.0% (AC=5, hom=0)29 overlapping SVs

1 paper

chr4:11399292 C>T

NM_005114.4

p.S238S

c.714G>A

Sulfotransfer_1

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)29 overlapping SVs

1 paper

chr4:11399234 G>A

NM_005114.4

p.R258W

c.772C>T

Sulfotransfer_1

Exome: 0.0% (AC=57, hom=0)Genome: 0.0% (AC=7, hom=0)29 overlapping SVs

1 paper

chr4:11399429 G>A

NM_005114.4

p.R193C

c.577C>T

Sulfotransfer_1

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)29 overlapping SVs

1 paper

chr4:11399225 C>T

NM_005114.4

p.G261S

c.781G>A

Sulfotransfer_1

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=0)29 overlapping SVs

1 paper

chr4:11399464 T>G

NM_005114.4

p.D181A

c.542A>C

Sulfotransfer_1

exact variant not in gnomAD29 overlapping SVs

1 paper

chr4:11399466 G>A

NM_005114.4

p.R180R

c.540C>T

Sulfotransfer_1

Exome: 0.0% (AC=15, hom=0)Genome: n/a29 overlapping SVs

1 paper

chr4:11399169 G>C

NM_005114.4

p.P279P

c.837C>G

Sulfotransfer_1

Exome: 0.0% (AC=303, hom=0)Genome: 0.0% (AC=35, hom=0)29 overlapping SVs

1 paper

chr4:11399515 T>C

NM_005114.4

p.H164R

c.491A>G

Sulfotransfer_1

exact variant not in gnomAD30 overlapping SVs

2 papers

chr4:11399122 T>C

NM_005114.4

p.K295R

c.884A>G

Sulfotransfer_1

Exome: 0.3% (AC=4308, hom=178)Genome: 2.9% (AC=4387, hom=208)29 overlapping SVs

1 paper

chr4:11399549 C>T

NM_005114.4

p.V153M

c.457G>A

Sulfotransfer_1

Exome: 0.0% (AC=20, hom=0)Genome: n/a30 overlapping SVs

1 paper

chr4:11399567 G>A

NM_005114.4

p.R147*

c.439C>T

Sulfotransfer_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a30 overlapping SVs

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