Varaico: Literature-Extracted Genetic Variants

Gene:CERS3
Variant:p.I99S

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.I99S
c.296T>G
Surrounding Variants
2 papers
NM_001378789.1
p.R111C
c.331C>T
1 paper
NM_001378789.1
p.R111H
c.332G>A
1 paper
NM_001378789.1
p.Q112H
c.336G>T
1 paper
NM_001378789.1
p.Q112H
c.336G>C
1 paper
NM_001378789.1
p.R120W
c.358C>T
1 paper
NM_001378789.1
p.R120L
c.359G>T
1 paper
NM_001378789.1
p.R121W
c.361C>T
1 paper
NM_001378789.1
p.E124D
c.372G>T
1 paper
NM_001378789.1
p.E124D
c.372G>C
1 paper
NM_001378789.1
p.K131E
c.391A>G
1 paper
NM_001378789.1
p.K131T
c.392A>C
1 paper
NM_001378789.1
p.K131N
c.393A>C
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