Varaico: Literature-Extracted Genetic Variants

Gene:EBF1
Variant:p.L154*

EBF1

216 papers

Pfam Domains

COE1_DBDaa 17–247UCSCTranscription factor COE1 DNA-binding domain
TIGaa 262–344UCSCIPT/TIG domain
COE1_HLHaa 347–390UCSCTranscription factor COE1 helix-loop-helix domain

Gene Aliases

HGNC Name

EBF transcription factor 1

HGNC Alias Symbols

OLF1; COE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024007.5
p.L154*
c.461T>A
Surrounding Variants
1 paper
NM_024007.5
p.R152Q
c.455G>A
1 paper
NM_024007.5
p.R152*
c.454C>T
1 paper
NM_024007.5
p.R152G
c.454C>G
1 paper
NM_024007.5
p.C151S
c.452G>C
1 paper
NM_024007.5
p.H157R
c.470A>G
1 paper
NM_024007.5
p.C151S
c.451T>A
1 paper
NM_024007.5
p.M150K
c.449T>A
1 paper
NM_024007.5
p.E158V
c.473A>T
1 paper
NM_024007.5
p.E158delFs
c.472delC
2 papers
NM_024007.5
p.E158fs
c.472_473fs
1 paper
NM_024007.5
p.M150L
c.448A>T
1 paper
NM_024007.5
p.M150L
c.448A>C
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