Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.W321*

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
Selected Variant
2 papers
NM_004273.5
p.W321*
c.963G>A
Surrounding Variants
2 papers
NM_004273.5
p.W321*
c.962G>A
1 paper
NM_004273.5
p.T320S
c.959C>G
1 paper
NM_004273.5
p.T320S
c.958A>T
1 paper
NM_004273.5
p.D326insFs
c.976dupG
1 paper
NM_004273.5
p.A315fs
c.943_944fs
1 paper
NM_004273.5
p.F314Fs
c.942delinsTTFs
2 papers
NM_004273.5
p.Q330*
c.988C>T
1 paper
NM_004273.5
p.A313_F314insA
c.937_941ins3
1 paper
NM_004273.5
p.M311R
c.932T>G
1 paper
NM_004273.5
p.R310L
c.929G>T
3 papers
NM_004273.5
p.R310C
c.928C>T
1 paper
NM_004273.5
p.E335K
c.1003G>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."