Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.R276H

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.R276H
c.827G>A
Surrounding Variants
1 paper
NM_004273.5
p.Q279*
c.835C>T
1 paper
NM_004273.5
p.H269L
c.806A>T
3 papers
NM_004273.5
p.E268*
c.802G>T
1 paper
NM_004273.5
p.P285delFs
c.855delG
1 paper
NM_004273.5
p.L286fs
c.856_857fs
8 papers
NM_004273.5
p.L286P
c.857T>C
1 paper
NM_004273.5
p.R265S
c.793C>A
3 papers
NM_004273.5
p.C264Y
c.791G>A
1 paper
NM_004273.5
p.C264S
c.791G>C
1 paper
NM_004273.5
p.C264S
c.790T>A
1 paper
NM_004273.5
p.A261V
c.782C>T
1 paper
NM_004273.5
p.A261T
c.781G>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."