Varaico: Literature-Extracted Genetic Variants

Gene:CERS3
Variant:p.W282*

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.W282*
c.845G>A
Surrounding Variants
1 paper
NM_001378789.1
p.F267L
c.801C>G
1 paper
NM_001378789.1
p.F267L
c.801C>A
1 paper
NM_001378789.1
p.F267L
c.799T>C
1 paper
NM_001378789.1
p.T259I
c.776C>T
1 paper
NM_001378789.1
p.K249R
c.746A>G
1 paper
NM_001378789.1
p.W244*
c.732G>A
1 paper
NM_001378789.1
p.W244*
c.731G>A
2 papers
NM_001378789.1
p.D239V
c.716A>T
NM_001290341.2
p.D250V
c.749A>T
1 paper
NM_001378789.1
p.T232N
c.695C>A
2 papers
NM_001378789.1
p.R229H
c.686G>A
1 paper
NM_001378789.1
p.R229C
c.685C>T
1 paper
NM_001378789.1
p.N226Y
c.676A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."