Varaico: Literature-Extracted Genetic Variants

Gene:EBF1
Variant:p.R111W

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.R111W
c.331C>T
Surrounding Variants
1 paper
NM_024007.5
p.Q113*
c.337C>T
1 paper
NM_024007.5
p.G107R
c.319G>C
1 paper
NM_024007.5
p.G107R
c.319G>A
1 paper
NM_024007.5
p.N105fs
c.313_314fs
1 paper
NM_024007.5
p.G119Splc
c.355+1G>C
1 paper
NM_024007.5
p.E102K
c.304G>A
1 paper
NM_024007.5
p.N100fs
c.298_299fs
1 paper
NM_024007.5
p.K97_E98Splc
c.292-1G>A
1 paper
NM_024007.5
p.K97_E98Splc
c.291+1G>C
1 paper
NM_024007.5
p.E94_K95delFs
c.280_283del4
1 paper
NM_024007.5
p.E94fs
c.280_281fs
1 paper
NM_024007.5
p.V93M
c.277G>A
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