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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HS6ST1

HS6ST1

153 papers

RefSeq Summary

The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfa...

Pfam Domains

Sulfotransfer_2aa 79–351UCSCSulfotransferase family

Gene Aliases

HGNC Name

heparan sulfate 6-O-sulfotransferase 1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 90 variants

27 papers

chr2:128268653 G>T

NM_004807.3

p.R249S

c.745C>A

Sulfotransfer_2

Exome: 20.6% (AC=168816, hom=0)Genome: 0.6% (AC=733, hom=0)143 overlapping SVs

22 papers

chr2:128318303 G>C

NM_004807.3

p.D87E

c.261C>G

Sulfotransfer_2

exact variant not in gnomAD143 overlapping SVs

22 papers

chr2:128318303 G>T

NM_004807.3

p.D87E

c.261C>A

Sulfotransfer_2

Exome: 23.0% (AC=215889, hom=0)Genome: 0.9% (AC=1095, hom=0)143 overlapping SVs

11 papers

chr2:128318223 A>C

NM_004807.3

p.V114G

c.341T>G

Sulfotransfer_2

Exome: 2.9% (AC=30664, hom=0)Genome: 0.2% (AC=253, hom=0)143 overlapping SVs

11 papers

chr2:128268254 G>A

NM_004807.3

p.R382W

c.1144C>T

Exome: 0.1% (AC=1774, hom=19)Genome: 0.1% (AC=152, hom=2)143 overlapping SVs

9 papers

chr2:128268286 C>T

NM_004807.3

p.R371H

c.1112G>A

Exome: 4.4% (AC=37416, hom=0)Genome: 0.0% (AC=53, hom=0)143 overlapping SVs

7 papers

chr2:128318365 T>A

NM_004807.3

p.K67*

c.199A>T

Exome: 0.1% (AC=1144, hom=0)Genome: 0.0% (AC=5, hom=0)143 overlapping SVs

7 papers

chr2:128268746 G>A

NM_004807.3

p.P218S

c.652C>T

Sulfotransfer_2

Exome: 0.3% (AC=4007, hom=1)Genome: 0.2% (AC=303, hom=0)143 overlapping SVs

5 papers

chr2:128268673 G>A

NM_004807.3

p.P242L

c.725C>T

Sulfotransfer_2

Exome: 0.0% (AC=148, hom=1)Genome: 0.0% (AC=19, hom=0)143 overlapping SVs

5 papers

chr2:128268481 C>T

NM_004807.3

p.R306Q

c.917G>A

Sulfotransfer_2

Exome: 0.1% (AC=1747, hom=4)Genome: 0.1% (AC=118, hom=0)143 overlapping SVs

5 papers

chr2:128268188 T>C

NM_004807.3

p.M404V

c.1210A>G

Exome: 0.0% (AC=3, hom=0)Genome: n/a143 overlapping SVs

5 papers

chr2:128268184 C>A

NM_004807.3

p.S405I

c.1214G>T

Exome: 0.0% (AC=45, hom=0)Genome: 0.0% (AC=49, hom=0)143 overlapping SVs

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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."