Varaico: Literature-Extracted Genetic Variants

Gene:CERS3
Variant:p.N305K

CERS3

69 papers

RefSeq Summary

This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA ...

Pfam Domains

Homeodomainaa 64–126UCSCHomeodomain
Homeodomainaa 64–126UCSCHomeodomain
TRAM_LAG1_CLN8aa 131–324UCSCTLC domain

Gene Aliases

HGNC Name

ceramide synthase 3

HGNC Previous Symbol

LASS3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001378789.1
p.N305K
c.915C>G
Surrounding Variants
2 papers
NM_001378789.1
p.N305K
c.915C>A
1 paper
NM_001378789.1
p.N305S
c.914A>G
1 paper
NM_001378789.1
p.L304P
c.911T>C
1 paper
NM_001378789.1
p.Q307*
c.919C>T
1 paper
NM_001378789.1
p.Q307E
c.919C>G
1 paper
NM_001378789.1
p.V313A
c.938T>C
1 paper
NM_001378789.1
p.L295L
c.885C>T
1 paper
NM_001378789.1
p.M292delFs
c.876delC
1 paper
NM_001378789.1
p.W318insFs
c.952dupT
1 paper
NM_001378789.1
p.M292fs
c.874_875fs
1 paper
NM_001378789.1
p.W282Splc
c.845+4204C>T
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