Varaico: Literature-Extracted Genetic Variants

Gene:CHSY1
Variant:p.F86L

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
2 papers
NM_014918.5
p.F86L
c.258T>G
Surrounding Variants
2 papers
NM_014918.5
p.F86L
c.258T>A
2 papers
NM_014918.5
p.F86L
c.256T>C
1 paper
NM_014918.5
p.A94A
c.282C>T
1 paper
NM_014918.5
p.G74G
c.222C>A
4 papers
NM_014918.5
p.Q69*
c.205C>T
1 paper
NM_014918.5
p.D64H
c.190G>C
1 paper
NM_014918.5
p.A54A
c.162G>A
1 paper
NM_014918.5
p.A53T
c.157G>A
2 papers
NM_014918.5
p.S32delFs
c.96delG
1 paper
NM_014918.5
p.L28del1
c.82_83delCAG
1 paper
NM_014918.5
p.G19_L28del0
c.55_84del30
1 paper
NM_014918.5
p.G19G
c.57C>T
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