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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHST10

Variant:p.H249Y

CHST10

43 papers

RefSeq Summary

This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransfera...

Pfam Domains

Sulfotransfer_2aa 111–349UCSCSulfotransferase family

Gene Aliases

HGNC Name

carbohydrate sulfotransferase 10

HGNC Alias Symbol

HNK-1ST

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:100393571 G>A

NM_004854.5

p.H249Y

c.745C>T

Sulfotransfer_2

exact variant not in gnomAD148 overlapping SVs

Surrounding Variants

1 paper

chr2:100393576 G>A

NM_004854.5

p.P247L

c.740C>T

Sulfotransfer_2

Exome: 0.0% (AC=165, hom=0)Genome: 0.0% (AC=9, hom=0)148 overlapping SVs

2 papers

chr2:100393581 G>A

NM_004854.5

p.G245G

c.735C>T

Sulfotransfer_2

Exome: 0.2% (AC=2919, hom=105)Genome: 0.2% (AC=345, hom=13)148 overlapping SVs

1 paper

chr2:100393592 G>A

NM_004854.5

p.R242C

c.724C>T

Sulfotransfer_2

Exome: 0.0% (AC=107, hom=0)Genome: 0.0% (AC=14, hom=0)148 overlapping SVs

1 paper

chr2:100393595 C>A

NM_004854.5

p.V241L

c.721G>T

Sulfotransfer_2

exact variant not in gnomAD148 overlapping SVs

1 paper

chr2:100393595 C>G

NM_004854.5

p.V241L

c.721G>C

Sulfotransfer_2

exact variant not in gnomAD148 overlapping SVs

1 paper

chr2:100393544 C>T

NM_004854.5

p.D258N

c.772G>A

Sulfotransfer_2

Exome: 0.0% (AC=40, hom=0)Genome: n/a148 overlapping SVs

2 papers

chr2:100393619 G>A

NM_004854.5

p.R233W

c.697C>T

Sulfotransfer_2

Exome: 0.0% (AC=6, hom=0)Genome: n/a148 overlapping SVs

1 paper

chr2:100393521 C>T

NM_004854.5

p.T265T

c.795G>A

Sulfotransfer_2

Exome: 0.0% (AC=727, hom=9)Genome: 0.1% (AC=96, hom=2)148 overlapping SVs

1 paper

chr2:100393621 G>A

NM_004854.5

p.T232I

c.695C>T

Sulfotransfer_2

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=3, hom=0)148 overlapping SVs

1 paper

chr2:100393497 A>C

NM_004854.5

p.C273W

c.819T>G

Sulfotransfer_2

Exome: 0.0% (AC=251, hom=0)Genome: 0.0% (AC=2, hom=0)148 overlapping SVs

1 paper

chr2:100393690 A>G

NM_004854.5

p.F209S

c.626T>C

Sulfotransfer_2

Exome: 0.0% (AC=2, hom=0)Genome: n/a148 overlapping SVs

1 paper

chr2:100393693 C>T

NM_004854.5

p.R208Q

c.623G>A

Sulfotransfer_2

Exome: 0.0% (AC=6, hom=0)Genome: n/a148 overlapping SVs

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