Varaico: Literature-Extracted Genetic Variants

Gene:CHST1
Variant:p.R289W

CHST1

58 papers

RefSeq Summary

This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 2011].

Pfam Domains

Sulfotransfer_1aa 60–384UCSCSulfotransferase domain

Gene Aliases

HGNC Name

carbohydrate sulfotransferase 1

HGNC Alias Symbols

C6ST; KSGal6ST

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003654.6
p.R289W
c.865C>T
Surrounding Variants
1 paper
NM_003654.6
p.Y302Y
c.906C>T
1 paper
NM_003654.6
p.T274M
c.821C>T
1 paper
NM_003654.6
p.T273A
c.817A>G
1 paper
NM_003654.6
p.T313S
c.937A>T
1 paper
NM_003654.6
p.T313S
c.938C>G
1 paper
NM_003654.6
p.K263K
c.789A>G
1 paper
NM_003654.6
p.E315K
c.943G>A
1 paper
NM_003654.6
p.R255_W257del3
c.763_770del9
1 paper
NM_003654.6
p.V328M
c.982G>A
1 paper
NM_003654.6
p.D249N
c.745G>A
1 paper
NM_003654.6
p.R248H
c.743G>A
1 paper
NM_003654.6
p.R248C
c.742C>T
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."