Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.K239R

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
1 paper
NM_004273.5
p.K239R
c.716A>G
Surrounding Variants
2 papers
NM_004273.5
p.K240*
c.718A>T
1 paper
NM_004273.5
p.Y245*
c.735C>A
1 paper
NM_004273.5
p.Y245*
c.735C>G
3 papers
NM_004273.5
p.V233I
c.697G>A
1 paper
NM_004273.5
p.H246Q
c.738C>G
2 papers
NM_004273.5
p.C247S
c.739T>A
1 paper
NM_004273.5
p.D231A
c.692A>C
2 papers
NM_004273.5
p.C247S
c.740G>C
1 paper
NM_004273.5
p.E230K
c.688G>A
1 paper
NM_004273.5
p.E230*
c.688G>T
1 paper
NM_004273.5
p.S227C
c.680C>G
2 papers
NM_004273.5
p.S225R
c.675C>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."