Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHST6

CHST6

158 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gen...

Pfam Domains

Sulfotransfer_1aa 40–357UCSCSulfotransferase domain

Gene Aliases

HGNC Name

carbohydrate sulfotransferase 6

HGNC Previous Symbol

MCDC1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 488 variants

21 papers

chr16:75479230 A>C

NM_021615.5

p.L200R

c.599T>G

Sulfotransfer_1

Exome: 0.0% (AC=461, hom=0)Genome: 0.0% (AC=32, hom=0)20 overlapping SVs

14 papers

chr16:75479198 G>A

NM_021615.5

p.R211W

c.631C>T

Sulfotransfer_1

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=1, hom=0)20 overlapping SVs

14 papers

chr16:75479026 T>C

NM_021615.5

p.Y268C

c.803A>G

Sulfotransfer_1

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=3, hom=0)20 overlapping SVs

13 papers

chr16:75479216 G>A

NM_021615.5

p.R205W

c.613C>T

Sulfotransfer_1

Exome: 0.0% (AC=2, hom=0)Genome: n/a20 overlapping SVs

13 papers

chr16:75479197 C>T

NM_021615.5

p.R211Q

c.632G>A

Sulfotransfer_1

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)20 overlapping SVs

13 papers

chr16:75479015 G>T

NM_021615.5

p.R272S

c.814C>A

Sulfotransfer_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a20 overlapping SVs

13 papers

chr16:75479009 C>T

NM_021615.5

p.E274K

c.820G>A

Sulfotransfer_1

Exome: 0.0% (AC=8, hom=0)Genome: n/a20 overlapping SVs

13 papers

chr16:75478937 G>A

NM_021615.5

p.Q298*

c.892C>T

Sulfotransfer_1

Exome: 0.0% (AC=6, hom=0)Genome: n/a21 overlapping SVs

12 papers

chr16:75479828 T>A

NM_021615.5

p.M1L

c.1A>T

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=12, hom=0)20 overlapping SVs

12 papers

chr16:75479681 G>A

NM_021615.5

p.R50C

c.148C>T

Sulfotransfer_1

exact variant not in gnomAD20 overlapping SVs

12 papers

chr16:75479525 A>C

NM_021615.5

p.C102G

c.304T>G

Sulfotransfer_1

Exome: 0.0% (AC=66, hom=0)Genome: 0.0% (AC=4, hom=0)19 overlapping SVs

12 papers

chr16:75479180 C>T

NM_021615.5

p.A217T

c.649G>A

Sulfotransfer_1

Exome: 0.0% (AC=46, hom=0)Genome: n/a20 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."