Varaico: Literature-Extracted Genetic Variants

Gene:CHSY1

CHSY1

105 papers

RefSeq Summary

This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles ...

Pfam Domains

CHGNaa 238–777UCSCChondroitin N-acetylgalactosaminyltransferase

Gene Aliases

HGNC Name

chondroitin sulfate synthase 1

HGNC Alias Symbols

KIAA0990; CSS1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 90 variants
6 papers
NM_014918.5
p.P539R
c.1616C>G
5 papers
NM_014918.5
p.P359S
c.1075C>T
5 papers
NM_014918.5
p.R588T
c.1763G>C
4 papers
NM_014918.5
p.Q69*
c.205C>T
3 papers
NM_014918.5
p.R107Splc
c.321-3C>G
3 papers
NM_014918.5
p.D633N
c.1897G>A
2 papers
NM_014918.5
p.G5delFs
c.14delC
2 papers
NM_014918.5
p.S32delFs
c.96delG
2 papers
NM_014918.5
p.F86L
c.256T>C
2 papers
NM_014918.5
p.F86L
c.258T>G
2 papers
NM_014918.5
p.F86L
c.258T>A
2 papers
NM_014918.5
p.A263V
c.788C>T
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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."