Varaico: Literature-Extracted Genetic Variants

Gene:CHSY3

CHSY3

77 papers

RefSeq Summary

CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008].

Pfam Domains

CHGNaa 328–864UCSCChondroitin N-acetylgalactosaminyltransferase

Gene Aliases

HGNC Name

chondroitin sulfate synthase 3

HGNC Alias Symbols

CSS3; CHSY-2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
3 papers
NM_175856.5
p.G629R
c.1885G>A
3 papers
NM_175856.5
p.D764G
c.2291A>G
2 papers
NM_175856.5
p.A164T
c.490G>A
2 papers
NM_175856.5
p.L366L
c.1096C>T
2 papers
NM_175856.5
p.G377D
c.1130G>A
2 papers
NM_175856.5
p.G629R
c.1885G>C
2 papers
NM_175856.5
p.F858F
c.2574C>T
1 paper
NM_175856.5
p.V12insFs
c.35dupT
1 paper
NM_175856.5
p.R40C
c.118C>T
1 paper
NM_175856.5
p.C45Y
c.134G>A
1 paper
NM_175856.5
p.G58D
c.173G>A
1 paper
NM_175856.5
p.P76Q
c.227C>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."