Varaico: Literature-Extracted Genetic Variants

Gene:CERS3
Variant:p.E353_E355del0

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.E353_E355del0
c.1059_1064del6
Surrounding Variants
2 papers
NM_001378789.1
p.E351_E353del0
c.1053_1058del6
1 paper
NM_001378789.1
p.K366N
c.1098G>T
1 paper
NM_001378789.1
p.K366N
c.1098G>C
1 paper
NM_001378789.1
p.G368delFs
c.1103delC
1 paper
NM_001378789.1
p.D342G
c.1025A>G
1 paper
NM_001378789.1
p.R370G
c.1108A>G
1 paper
NM_001378789.1
p.R370M
c.1109G>T
1 paper
NM_001378789.1
p.A371D
c.1112C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."