Varaico: Literature-Extracted Genetic Variants

Gene:CHST1
Variant:p.E178insFs

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.E178insFs
c.533_534insG
Surrounding Variants
1 paper
NM_003654.6
p.R183L
c.548G>T
1 paper
NM_003654.6
p.C197W
c.591C>G
1 paper
NM_003654.6
p.P141P
c.423G>A
1 paper
NM_003654.6
p.L123V
c.367C>G
1 paper
NM_003654.6
p.R234Q
c.701G>A
1 paper
NM_003654.6
p.V115I
c.343G>A
1 paper
NM_003654.6
p.A111_R114delFs
c.333_340del8
2 papers
NM_003654.6
p.R243C
c.727C>T
1 paper
NM_003654.6
p.P110L
c.329C>T
1 paper
NM_003654.6
p.R248C
c.742C>T
1 paper
NM_003654.6
p.R248H
c.743G>A
1 paper
NM_003654.6
p.D249N
c.745G>A
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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."