Varaico: Literature-Extracted Genetic Variants

Gene:CERS3
Variant:p.W15R

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
6 papers
NM_001378789.1
p.W15R
c.43T>A
Surrounding Variants
6 papers
NM_001378789.1
p.W15R
c.43T>C
1 paper
NM_001378789.1
p.L16I
c.46C>A
1 paper
NM_001378789.1
p.L16R
c.47T>G
1 paper
NM_001378789.1
p.W10*
c.30G>A
1 paper
NM_001378789.1
p.W10*
c.29G>A
1 paper
NM_001378789.1
p.E7Fs
c.21delinsCTFs
1 paper
NM_001378789.1
p.E7K
c.19G>A
1 paper
NM_001378789.1
p.M1V
c.1A>G
1 paper
NM_001378789.1
p.L31L
c.93C>T
1 paper
NM_001378789.1
p.V32I
c.94G>A
1 paper
NM_001378789.1
p.P36S
c.106C>T
1 paper
NM_001378789.1
p.F47F
c.141T>C
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