Varaico: Literature-Extracted Genetic Variants

Gene:CHSY1
Variant:p.P539R

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
Selected Variant
6 papers
NM_014918.5
p.P539R
c.1616C>G
Surrounding Variants
2 papers
NM_014918.5
p.I534L
c.1600A>T
2 papers
NM_014918.5
p.I534L
c.1600A>C
1 paper
NM_014918.5
p.F550L
c.1648T>C
1 paper
NM_014918.5
p.F550L
c.1650T>G
1 paper
NM_014918.5
p.F550L
c.1650T>A
1 paper
NM_014918.5
p.G552R
c.1654G>C
1 paper
NM_014918.5
p.G552R
c.1654G>A
1 paper
NM_014918.5
p.G521W
c.1561G>T
1 paper
NM_014918.5
p.L567delFs
c.1701delG
1 paper
NM_014918.5
p.L570L
c.1708C>T
5 papers
NM_014918.5
p.R588T
c.1763G>C
1 paper
NM_014918.5
p.R588K
c.1763G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."