Varaico: Literature-Extracted Genetic Variants

Gene:CERS1

CERS1

69 papers

RefSeq Summary

This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neuro...

Pfam Domains

TRAM_LAG1_CLN8aa 98–304UCSCTLC domain

Gene Aliases

HGNC Name

ceramide synthase 1

HGNC Previous Symbol

LASS1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
7 papers
NM_021267.5
p.H183Q
c.549C>G
7 papers
NM_021267.5
p.H183Q
c.549C>A
3 papers
NM_021267.5
p.V263I
c.787G>A
2 papers
NM_021267.5
p.D210G
c.629A>G
2 papers
NM_021267.5
p.R255C
c.763C>T
2 papers
NM_021267.5
p.A266D
c.797C>A
1 paper
NM_021267.5
p.A4A
c.12G>C
1 paper
NM_021267.5
p.G5R
c.13G>A
1 paper
NM_021267.5
p.G9R
c.25G>A
1 paper
NM_021267.5
p.G12V
c.35G>T
1 paper
NM_021267.5
p.E14K
c.40G>A
1 paper
NM_021267.5
p.Q24E
c.70C>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."