Varaico: Literature-Extracted Genetic Variants

Gene:CHSY1
Variant:p.C751R

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
1 paper
NM_014918.5
p.C751R
c.2251T>C
Surrounding Variants
1 paper
NM_014918.5
p.P753R
c.2258C>G
1 paper
NM_014918.5
p.N754delFs
c.2260delT
1 paper
NM_014918.5
p.V728delFs
c.2184delG
1 paper
NM_014918.5
p.T774S
c.2320A>T
1 paper
NM_014918.5
p.T774S
c.2321C>G
1 paper
NM_014918.5
p.E783G
c.2348A>G
1 paper
NM_014918.5
p.R705P
c.2114G>C
2 papers
NM_014918.5
p.R705Q
c.2114G>A
1 paper
NM_014918.5
p.Y655C
c.1964A>G
1 paper
NM_014918.5
p.R643Q
c.1928G>A
1 paper
NM_014918.5
p.V635V
c.1905G>C
3 papers
NM_014918.5
p.D633N
c.1897G>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."