Varaico: Literature-Extracted Genetic Variants

Gene:EBF1
Variant:p.K193N

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.K193N
c.579A>T
Surrounding Variants
1 paper
NM_024007.5
p.K193N
c.579A>C
1 paper
NM_024007.5
p.C194G
c.580T>G
1 paper
NM_024007.5
p.C194S
c.580T>A
1 paper
NM_024007.5
p.C194F
c.581G>T
1 paper
NM_024007.5
p.C194S
c.581G>C
1 paper
NM_024007.5
p.N195I
c.584A>T
1 paper
NM_024007.5
p.F191L
c.573C>G
1 paper
NM_024007.5
p.F191L
c.573C>A
1 paper
NM_024007.5
p.F191L
c.571T>C
2 papers
NM_024007.5
p.Q196P
c.587A>C
1 paper
NM_024007.5
p.N197H
c.589A>C
1 paper
NM_024007.5
p.N197K
c.591T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."