Varaico: Literature-Extracted Genetic Variants

Gene:CHST1

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
1–12 of 49 variants
2 papers
NM_003654.6
p.R243C
c.727C>T
2 papers
NM_003654.6
p.V350M
c.1048G>A
2 papers
NM_003654.6
p.R361H
c.1082G>A
1 paper
NM_003654.6
p.M1_Q2insFs
c.3_4insA
1 paper
NM_003654.6
p.C34S
c.100T>A
1 paper
NM_003654.6
p.C34S
c.101G>C
1 paper
NM_003654.6
p.C34Y
c.101G>A
1 paper
NM_003654.6
p.C34W
c.102C>G
1 paper
NM_003654.6
p.P35S
c.103C>T
1 paper
NM_003654.6
p.A43V
c.128C>T
1 paper
NM_003654.6
p.T69T
c.207G>A
1 paper
NM_003654.6
p.R70C
c.208C>T
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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."