Varaico: Literature-Extracted Genetic Variants

Gene:CHSY1
Variant:p.R370*

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.R370*
c.1108C>T
Surrounding Variants
2 papers
NM_014918.5
p.F362S
c.1085T>C
1 paper
NM_014918.5
p.P360S
c.1078C>T
5 papers
NM_014918.5
p.P359S
c.1075C>T
1 paper
NM_014918.5
p.D353V
c.1058A>T
1 paper
NM_014918.5
p.R330H
c.989G>A
1 paper
NM_014918.5
p.R328H
c.983G>A
1 paper
NM_014918.5
p.E326K
c.976G>A
1 paper
NM_014918.5
p.R425H
c.1274G>A
1 paper
NM_014918.5
p.R314M
c.941G>T
1 paper
NM_014918.5
p.R314K
c.941G>A
1 paper
NM_014918.5
p.Q475H
c.1425G>T
1 paper
NM_014918.5
p.Q475H
c.1425G>C
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