Varaico: Literature-Extracted Genetic Variants

Gene:CERS3

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
1–12 of 86 variants
6 papers
NM_001378789.1
p.W15R
c.43T>C
6 papers
NM_001378789.1
p.W15R
c.43T>A
3 papers
NM_001378789.1
p.R75*
c.223C>T
3 papers
NM_001378789.1
p.E84D
c.252G>T
3 papers
NM_001378789.1
p.E84D
c.252G>C
3 papers
NM_001378789.1
p.K203_D204Splc
c.609+1G>T
2 papers
NM_001378789.1
p.R111C
c.331C>T
2 papers
NM_001378789.1
p.R229H
c.686G>A
2 papers
NM_001378789.1
p.D239V
c.716A>T
2 papers
NM_001378789.1
p.N305K
c.915C>A
2 papers
NM_001378789.1
p.E351_E353del0
c.1053_1058del6
1 paper
NM_001378789.1
p.M1V
c.1A>G
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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."