Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.C264Y

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
3 papers
NM_004273.5
p.C264Y
c.791G>A
Surrounding Variants
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.R265S
c.793C>A
1 paper
NM_004273.5
p.A261V
c.782C>T
1 paper
NM_004273.5
p.A261T
c.781G>A
2 papers
NM_004273.5
p.A261S
c.781G>T
3 papers
NM_004273.5
p.E268*
c.802G>T
1 paper
NM_004273.5
p.H269L
c.806A>T
7 papers
NM_004273.5
p.L259P
c.776T>C
1 paper
NM_004273.5
p.T258A
c.772A>G
1 paper
NM_004273.5
p.L255_K267delFs
c.765_799del35
1 paper
NM_004273.5
p.L255fs
c.763_764fs
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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."