Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.F159I

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.F159I
c.475T>A
Surrounding Variants
2 papers
NM_004273.5
p.L161F
c.481C>T
1 paper
NM_004273.5
p.Q154_Q155delFs
c.462_463delGC
1 paper
NM_004273.5
p.P164R
c.491C>G
6 papers
NM_004273.5
p.P164L
c.491C>T
1 paper
NM_004273.5
p.H167R
c.500A>G
2 papers
NM_004273.5
p.H167Q
c.501C>A
2 papers
NM_004273.5
p.H167Q
c.501C>G
1 paper
NM_004273.5
p.R170C
c.508C>T
2 papers
NM_004273.5
p.S146*
c.437C>A
1 paper
NM_004273.5
p.G144S
c.430G>A
2 papers
NM_004273.5
p.T143fs
c.427_428fs
1 paper
NM_004273.5
p.E175K
c.523G>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."