Varaico: Literature-Extracted Genetic Variants

Gene:EBF1
Variant:p.Q32*

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.Q32*
c.94C>T
Surrounding Variants
2 papers
NM_024007.5
p.W30*
c.90G>A
2 papers
NM_024007.5
p.W30*
c.89G>A
1 paper
NM_024007.5
p.A34T
c.100G>A
1 paper
NM_024007.5
p.A26G
c.77C>G
1 paper
NM_024007.5
p.A26T
c.76G>A
1 paper
NM_024007.5
p.N25insFs
c.74dupA
1 paper
NM_024007.5
p.N25fs
c.73_74fs
1 paper
NM_024007.5
p.M24I
c.72G>T
1 paper
NM_024007.5
p.M24I
c.72G>C
1 paper
NM_024007.5
p.M24I
c.72G>A
1 paper
NM_024007.5
p.N40D
c.118A>G
1 paper
NM_024007.5
p.G23D
c.68G>A
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