Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.G253D

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.G253D
c.758G>A
Surrounding Variants
1 paper
NM_004273.5
p.L255insFs
c.763dupC
1 paper
NM_004273.5
p.P254R
c.761C>G
1 paper
NM_004273.5
p.L255fs
c.763_764fs
1 paper
NM_004273.5
p.L255_K267delFs
c.765_799del35
1 paper
NM_004273.5
p.T258A
c.772A>G
2 papers
NM_004273.5
p.C247S
c.740G>C
7 papers
NM_004273.5
p.L259P
c.776T>C
2 papers
NM_004273.5
p.C247S
c.739T>A
1 paper
NM_004273.5
p.H246Q
c.738C>G
1 paper
NM_004273.5
p.Y245*
c.735C>A
1 paper
NM_004273.5
p.Y245*
c.735C>G
1 paper
NM_004273.5
p.A261T
c.781G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."