Varaico: Literature-Extracted Genetic Variants

Gene:CHSY3
Variant:p.G377D

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
2 papers
NM_175856.5
p.G377D
c.1130G>A
Surrounding Variants
1 paper
NM_175856.5
p.R375W
c.1123C>T
1 paper
NM_175856.5
p.H368insFs
c.1102_1103insT
1 paper
NM_175856.5
p.L366V
c.1096C>G
2 papers
NM_175856.5
p.L366L
c.1096C>T
1 paper
NM_175856.5
p.Q365K
c.1093C>A
1 paper
NM_175856.5
p.Q364_Q365del1
c.1091_1093delAAC
1 paper
NM_175856.5
p.M363V
c.1087A>G
1 paper
NM_175856.5
p.E362_M363Splc
c.1087-2A>G
1 paper
NM_175856.5
p.N407S
c.1220A>G
1 paper
NM_175856.5
p.S415S
c.1245T>A
1 paper
NM_175856.5
p.R418H
c.1253G>A
1 paper
NM_175856.5
p.R426M
c.1277G>T
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