Varaico: Literature-Extracted Genetic Variants

Gene:CHST1
Variant:p.N352_S353insFs

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.N352_S353insFs
c.1056_1057insC
Surrounding Variants
2 papers
NM_003654.6
p.V350M
c.1048G>A
1 paper
NM_003654.6
p.T356M
c.1067C>T
1 paper
NM_003654.6
p.E358K
c.1072G>A
2 papers
NM_003654.6
p.R361H
c.1082G>A
1 paper
NM_003654.6
p.T341I
c.1022C>T
1 paper
NM_003654.6
p.T341A
c.1021A>G
1 paper
NM_003654.6
p.Q333_P340del8
c.997_1019del24
1 paper
NM_003654.6
p.D367N
c.1099G>A
1 paper
NM_003654.6
p.A375S
c.1123G>T
1 paper
NM_003654.6
p.A375V
c.1124C>T
1 paper
NM_003654.6
p.V328M
c.982G>A
1 paper
NM_003654.6
p.E315K
c.943G>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."