Varaico: Literature-Extracted Genetic Variants

Gene:CERS1
Variant:p.R255C

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
Selected Variant
2 papers
NM_021267.5
p.R255C
c.763C>T
Surrounding Variants
1 paper
NM_021267.5
p.Y257C
c.770A>G
1 paper
NM_021267.5
p.F259L
c.775T>C
1 paper
NM_021267.5
p.F259L
c.777C>G
1 paper
NM_021267.5
p.F259L
c.777C>A
1 paper
NM_021267.5
p.P260S
c.778C>T
1 paper
NM_021267.5
p.P260L
c.779C>T
3 papers
NM_021267.5
p.V263I
c.787G>A
2 papers
NM_021267.5
p.A266D
c.797C>A
1 paper
NM_021267.5
p.A306T
c.916G>A
1 paper
NM_021267.5
p.A307T
c.919G>A
1 paper
NM_021267.5
p.A307G
c.920C>G
1 paper
NM_021267.5
p.V309L
c.925G>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."