Varaico: Literature-Extracted Genetic Variants

Gene:CHSY1
Variant:p.R107Splc

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
3 papers
NM_014918.5
p.R107Splc
c.321-3C>G
Surrounding Variants
1 paper
NM_014918.5
p.F120S
c.359T>C
1 paper
NM_014918.5
p.S121L
c.362C>T
1 paper
NM_014918.5
p.P130S
c.388C>T
1 paper
NM_014918.5
p.D171N
c.511G>A
1 paper
NM_014918.5
p.D171A
c.512A>C
1 paper
NM_014918.5
p.D173N
c.517G>A
1 paper
NM_014918.5
p.Y175N
c.523T>A
1 paper
NM_014918.5
p.R180C
c.538C>T
1 paper
NM_014918.5
p.N183T
c.548A>C
1 paper
NM_014918.5
p.E192K
c.574G>A
1 paper
NM_014918.5
p.G197E
c.590G>A
1 paper
NM_014918.5
p.T204M
c.611C>T
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