Varaico: Literature-Extracted Genetic Variants

Gene:EBF1
Variant:p.E94fs

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.E94fs
c.280_281fs
Surrounding Variants
1 paper
NM_024007.5
p.V93M
c.277G>A
1 paper
NM_024007.5
p.F92L
c.276C>G
1 paper
NM_024007.5
p.F92L
c.276C>A
1 paper
NM_024007.5
p.E94_K95delFs
c.280_283del4
1 paper
NM_024007.5
p.F92L
c.274T>C
1 paper
NM_024007.5
p.G91delFs
c.271delC
1 paper
NM_024007.5
p.V90E
c.269T>A
1 paper
NM_024007.5
p.K97_E98Splc
c.291+1G>C
1 paper
NM_024007.5
p.A88fs
c.262_263fs
1 paper
NM_024007.5
p.V82M
c.244G>A
1 paper
NM_024007.5
p.G79D
c.236G>A
1 paper
NM_024007.5
p.Q78fs
c.232_233fs
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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."