Varaico: Literature-Extracted Genetic Variants

Gene:CHSY1
Variant:p.R643Q

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.R643Q
c.1928G>A
Surrounding Variants
1 paper
NM_014918.5
p.V635V
c.1905G>C
3 papers
NM_014918.5
p.D633N
c.1897G>A
1 paper
NM_014918.5
p.D631V
c.1892A>T
1 paper
NM_014918.5
p.Y655C
c.1964A>G
1 paper
NM_014918.5
p.D631N
c.1891G>A
1 paper
NM_014918.5
p.F629C
c.1886T>G
1 paper
NM_014918.5
p.A611S
c.1831G>T
1 paper
NM_014918.5
p.E607D
c.1821G>T
1 paper
NM_014918.5
p.E607D
c.1821G>C
1 paper
NM_014918.5
p.D589N
c.1765G>A
5 papers
NM_014918.5
p.R588T
c.1763G>C
1 paper
NM_014918.5
p.R588K
c.1763G>A
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