Varaico: Literature-Extracted Genetic Variants

Gene:CERS3
Variant:p.T78I

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.T78I
c.233C>T
Surrounding Variants
1 paper
NM_001378789.1
p.T81S
c.242C>G
3 papers
NM_001378789.1
p.R75*
c.223C>T
3 papers
NM_001378789.1
p.E84D
c.252G>T
3 papers
NM_001378789.1
p.E84D
c.252G>C
1 paper
NM_001378789.1
p.K88Q
c.262A>C
1 paper
NM_001378789.1
p.Q93H
c.279A>T
1 paper
NM_001378789.1
p.Q93H
c.279A>C
1 paper
NM_001378789.1
p.L95L
c.285G>A
1 paper
NM_001378789.1
p.V60I
c.178G>A
1 paper
NM_001378789.1
p.I99S
c.296T>G
2 papers
NM_001378789.1
p.R111C
c.331C>T
1 paper
NM_001378789.1
p.R111H
c.332G>A
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