Varaico: Literature-Extracted Genetic Variants

Gene:CERS1
Variant:p.S231A

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
1 paper
NM_021267.5
p.S231A
c.691T>G
Surrounding Variants
1 paper
NM_021267.5
p.R234G
c.700C>G
1 paper
NM_021267.5
p.N222K
c.666C>G
1 paper
NM_021267.5
p.N222K
c.666C>A
1 paper
NM_021267.5
p.C244*
c.732C>A
1 paper
NM_021267.5
p.D213N
c.637G>A
2 papers
NM_021267.5
p.D210G
c.629A>G
1 paper
NM_021267.5
p.D210N
c.628G>A
1 paper
NM_021267.5
p.L208L
c.622C>T
1 paper
NM_021267.5
p.L204F
c.610C>T
1 paper
NM_021267.5
p.Y198H
c.592T>C
2 papers
NM_021267.5
p.R255C
c.763C>T
1 paper
NM_021267.5
p.Y257C
c.770A>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."