Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.T141M

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
7 papers
NM_004273.5
p.T141M
c.422C>T
Surrounding Variants
1 paper
NM_004273.5
p.R142C
c.424C>T
1 paper
NM_004273.5
p.R142H
c.425G>A
3 papers
NM_004273.5
p.R142L
c.425G>T
2 papers
NM_004273.5
p.T143fs
c.427_428fs
1 paper
NM_004273.5
p.G144S
c.430G>A
2 papers
NM_004273.5
p.S146*
c.437C>A
1 paper
NM_004273.5
p.L136_R142insFs
c.407_426dup20
1 paper
NM_004273.5
p.H134delFs
c.400_401delCA
1 paper
NM_004273.5
p.P131H
c.392C>A
1 paper
NM_004273.5
p.P131fs
c.391_392fs
1 paper
NM_004273.5
p.A129A
c.387G>A
1 paper
NM_004273.5
p.Q154_Q155delFs
c.462_463delGC
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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."