Varaico: Literature-Extracted Genetic Variants

Gene:CHSY3
Variant:p.E577D

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.E577D
c.1731G>T
Surrounding Variants
1 paper
NM_175856.5
p.E577D
c.1731G>C
1 paper
NM_175856.5
p.Q565fs
c.1693_1694fs
1 paper
NM_175856.5
p.Q564fs
c.1690_1691fs
1 paper
NM_175856.5
p.R559C
c.1675C>T
1 paper
NM_175856.5
p.V557G
c.1670T>G
1 paper
NM_175856.5
p.V555V
c.1665G>A
1 paper
NM_175856.5
p.L542F
c.1624C>T
1 paper
NM_175856.5
p.D540V
c.1619A>T
1 paper
NM_175856.5
p.G615E
c.1844G>A
1 paper
NM_175856.5
p.E536*
c.1606G>T
1 paper
NM_175856.5
p.H533H
c.1599C>T
1 paper
NM_175856.5
p.M532V
c.1594A>G
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