Varaico: Literature-Extracted Genetic Variants

Gene:CHSY3
Variant:p.Q846H

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
Selected Variant
1 paper
NM_175856.5
p.Q846H
c.2538G>T
Surrounding Variants
1 paper
NM_175856.5
p.Q846H
c.2538G>C
1 paper
NM_175856.5
p.Q846insFs
c.2537_2538ins4
1 paper
NM_175856.5
p.Q846R
c.2537A>G
1 paper
NM_175856.5
p.Q846fs
c.2536_2537fs
2 papers
NM_175856.5
p.F858F
c.2574C>T
1 paper
NM_175856.5
p.L867I
c.2599C>A
1 paper
NM_175856.5
p.L869F
c.2605C>T
1 paper
NM_175856.5
p.*883C
c.2649A>C
1 paper
NM_175856.5
p.*883C
c.2649A>T
1 paper
NM_175856.5
p.G795E
c.2384G>A
1 paper
NM_175856.5
p.A793A
c.2379A>G
3 papers
NM_175856.5
p.D764G
c.2291A>G
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