Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HS3ST1

Variant:p.E86A

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

1 paper

chr4:11399749 T>G

NM_005114.4

p.E86A

c.257A>C

Sulfotransfer_1

exact variant not in gnomAD30 overlapping SVs

Surrounding Variants

1 paper

chr4:11399750 C>G

NM_005114.4

p.E86Q

c.256G>C

Sulfotransfer_1

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

1 paper

chr4:11399756 C>T

NM_005114.4

p.E84K

c.250G>A

Sulfotransfer_1

Exome: 0.0% (AC=72, hom=0)Genome: 0.0% (AC=7, hom=0)30 overlapping SVs

1 paper

chr4:11399757 C>T

NM_005114.4

p.A83A

c.249G>A

Sulfotransfer_1

Exome: 0.0% (AC=150, hom=0)Genome: 0.0% (AC=3, hom=0)30 overlapping SVs

1 paper

chr4:11399759 C>T

NM_005114.4

p.A83T

c.247G>A

Sulfotransfer_1

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)30 overlapping SVs

1 paper

chr4:11399730 C>A

NM_005114.4

p.W92C

c.276G>T

Sulfotransfer_1

Exome: 0.0% (AC=55, hom=0)Genome: 0.0% (AC=7, hom=0)30 overlapping SVs

1 paper

chr4:11399730 C>G

NM_005114.4

p.W92C

c.276G>C

Sulfotransfer_1

exact variant not in gnomAD30 overlapping SVs

1 paper

chr4:11399785 A>C

NM_005114.4

p.L74R

c.221T>G

Sulfotransfer_1

exact variant not in gnomAD30 overlapping SVs

1 paper

chr4:11399810 C>T

NM_005114.4

p.G66S

c.196G>A

Sulfotransfer_1

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=0, hom=0)30 overlapping SVs

1 paper

chr4:11399677 G>A

NM_005114.4

p.S110F

c.329C>T

Sulfotransfer_1

exact variant not in gnomAD30 overlapping SVs

1 paper

chr4:11399822 C>T

NM_005114.4

p.V62M

c.184G>A

Sulfotransfer_1

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)30 overlapping SVs

1 paper

chr4:11399825 C>T

NM_005114.4

p.G61S

c.181G>A

Sulfotransfer_1

Exome: 0.0% (AC=2, hom=0)Genome: n/a30 overlapping SVs

1 paper

chr4:11399644 G>A

NM_005114.4

p.P121L

c.362C>T

Sulfotransfer_1

exact variant not in gnomAD30 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."