Varaico: Literature-Extracted Genetic Variants

Gene:CERS4
Variant:p.P80fs

CERS4

49 papers

Pfam Domains

Homeodomainaa 71–127UCSCHomeodomain
TRAM_LAG1_CLN8aa 132–325UCSCTLC domain

Gene Aliases

HGNC Name

ceramide synthase 4

HGNC Previous Symbol

LASS4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024552.3
p.P80fs
c.238_239fs
Surrounding Variants
1 paper
NM_024552.3
p.A82A
c.246C>T
1 paper
NM_024552.3
p.K86K
c.258A>G
1 paper
NM_024552.3
p.K96M
c.287A>T
1 paper
NM_024552.3
p.E97*
c.289G>T
1 paper
NM_024552.3
p.G108fs
c.322_323fs
1 paper
NM_024552.3
p.T114I
c.341C>T
1 paper
NM_024552.3
p.R120S
c.360A>C
1 paper
NM_024552.3
p.R120S
c.360A>T
1 paper
NM_024552.3
p.R121L
c.362G>T
2 papers
NM_024552.3
p.R122W
c.364C>T
1 paper
NM_024552.3
p.D125N
c.373G>A
3 papers
NM_024552.3
p.R139W
c.415A>T
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