Varaico: Literature-Extracted Genetic Variants

Gene:CHST3

CHST3

117 papers

RefSeq Summary

This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutat...

Pfam Domains

Sulfotransfer_1aa 132–452UCSCSulfotransferase domain

Gene Aliases

HGNC Name

carbohydrate sulfotransferase 3

HGNC Alias Symbols

C6ST; C6ST1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 166 variants
12 papers
NM_004273.5
p.R304Q
c.911G>A
8 papers
NM_004273.5
p.G178insFs
c.533dupG
8 papers
NM_004273.5
p.L286P
c.857T>C
7 papers
NM_004273.5
p.T141M
c.422C>T
7 papers
NM_004273.5
p.L259P
c.776T>C
6 papers
NM_004273.5
p.P164L
c.491C>T
6 papers
NM_004273.5
p.A179fs
c.535_536fs
6 papers
NM_004273.5
p.Y201*
c.603C>A
6 papers
NM_004273.5
p.Y201*
c.603C>G
6 papers
NM_004273.5
p.R221C
c.661C>T
6 papers
NM_004273.5
p.R357Q
c.1070G>A
4 papers
NM_004273.5
p.R222W
c.664C>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."