Varaico: Literature-Extracted Genetic Variants

Gene:CERS1
Variant:p.A72A

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.A72A
c.216C>G
Surrounding Variants
1 paper
NM_021267.5
p.F82S
c.245T>C
1 paper
NM_021267.5
p.E59K
c.175G>A
1 paper
NM_021267.5
p.R47G
c.139C>G
1 paper
NM_021267.5
p.T38K
c.113C>A
1 paper
NM_021267.5
p.A30delFs
c.88delC
1 paper
NM_021267.5
p.Q24E
c.70C>G
1 paper
NM_021267.5
p.E14K
c.40G>A
1 paper
NM_021267.5
p.G12V
c.35G>T
1 paper
NM_021267.5
p.G9R
c.25G>A
1 paper
NM_021267.5
p.G5R
c.13G>A
1 paper
NM_021267.5
p.A4A
c.12G>C
1 paper
NM_021267.5
p.A86V
c.257C>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."