Varaico: Literature-Extracted Genetic Variants

Gene:EBF1

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
1–12 of 274 variants
5 papers
NM_024007.5
p.R209Q
c.626G>A
3 papers
NM_024007.5
p.R63Q
c.188G>A
3 papers
NM_024007.5
p.R381G
c.1141A>G
2 papers
NM_024007.5
p.W30*
c.89G>A
2 papers
NM_024007.5
p.W30*
c.90G>A
2 papers
NM_024007.5
p.A52T
c.154G>A
2 papers
NM_024007.5
p.R63W
c.187C>T
2 papers
NM_024007.5
p.N66K
c.198C>G
2 papers
NM_024007.5
p.N66K
c.198C>A
2 papers
NM_024007.5
p.T122M
c.365C>T
2 papers
NM_024007.5
p.I139T
c.416T>C
2 papers
NM_024007.5
p.E158fs
c.472_473fs
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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."