Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.R221C

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
6 papers
NM_004273.5
p.R221C
c.661C>T
Surrounding Variants
4 papers
NM_004273.5
p.R222W
c.664C>T
1 paper
NM_004273.5
p.R222L
c.665G>T
2 papers
NM_004273.5
p.S225R
c.673A>C
2 papers
NM_004273.5
p.S225R
c.675C>A
2 papers
NM_004273.5
p.S225R
c.675C>G
1 paper
NM_004273.5
p.S227C
c.680C>G
1 paper
NM_004273.5
p.E212K
c.634G>A
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.P211S
c.631C>T
1 paper
NM_004273.5
p.D231A
c.692A>C
1 paper
NM_004273.5
p.L210M
c.628C>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."