Varaico: Literature-Extracted Genetic Variants

Gene:CHSY1
Variant:p.G5delFs

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.G5delFs
c.14delC
Surrounding Variants
1 paper
NM_014918.5
p.G5A
c.14G>C
1 paper
NM_014918.5
p.G5fs
c.13_14fs
1 paper
NM_014918.5
p.A8V
c.23C>T
1 paper
NM_014918.5
p.A8ins6
c.23_24ins18
1 paper
NM_014918.5
p.M1I
c.3G>T
1 paper
NM_014918.5
p.M1I
c.3G>C
1 paper
NM_014918.5
p.M1I
c.3G>A
1 paper
NM_014918.5
p.V12V
c.36G>C
1 paper
NM_014918.5
p.G19G
c.57C>T
1 paper
NM_014918.5
p.G19_L28del0
c.55_84del30
1 paper
NM_014918.5
p.L28del1
c.82_83delCAG
2 papers
NM_014918.5
p.S32delFs
c.96delG
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