Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.L294P

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.L294P
c.881T>C
Surrounding Variants
1 paper
NM_004273.5
p.Q298fs
c.892_893fs
1 paper
NM_004273.5
p.Q298_L299insFs
c.894_895insG
3 papers
NM_004273.5
p.D302H
c.904G>C
8 papers
NM_004273.5
p.L286P
c.857T>C
1 paper
NM_004273.5
p.L286fs
c.856_857fs
1 paper
NM_004273.5
p.D302D
c.906C>T
1 paper
NM_004273.5
p.P285delFs
c.855delG
1 paper
NM_004273.5
p.R304W
c.910C>T
12 papers
NM_004273.5
p.R304Q
c.911G>A
4 papers
NM_004273.5
p.L307P
c.920T>C
1 paper
NM_004273.5
p.Q279*
c.835C>T
3 papers
NM_004273.5
p.R310C
c.928C>T
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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."