Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.E112*

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.E112*
c.334G>T
Surrounding Variants
1 paper
NM_004273.5
p.P105insFs
c.313_314insA
1 paper
NM_004273.5
p.P105S
c.313C>T
2 papers
NM_004273.5
p.E121E
c.363G>A
1 paper
NM_004273.5
p.L101M
c.301C>A
1 paper
NM_004273.5
p.P124L
c.371C>T
1 paper
NM_004273.5
p.V128_P131insFs
c.384_391dup8
1 paper
NM_004273.5
p.A129A
c.387G>A
1 paper
NM_004273.5
p.P131fs
c.391_392fs
1 paper
NM_004273.5
p.P131H
c.392C>A
1 paper
NM_004273.5
p.H134delFs
c.400_401delCA
1 paper
NM_004273.5
p.L136_R142insFs
c.407_426dup20
1 paper
NM_004273.5
p.S85*
c.254C>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."