Varaico: Literature-Extracted Genetic Variants

Gene:EBF1
Variant:p.R381G

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
3 papers
NM_024007.5
p.R381G
c.1141A>G
Surrounding Variants
1 paper
NM_024007.5
p.R381S
c.1143G>T
1 paper
NM_024007.5
p.R381S
c.1143G>C
1 paper
NM_024007.5
p.A382T
c.1144G>A
1 paper
NM_024007.5
p.N396K
c.1188C>G
1 paper
NM_024007.5
p.N396K
c.1188C>A
1 paper
NM_024007.5
p.Q397*
c.1189C>T
1 paper
NM_024007.5
p.K402Q
c.1204A>C
1 paper
NM_024007.5
p.S428L
c.1283C>T
1 paper
NM_024007.5
p.M433I
c.1299G>T
1 paper
NM_024007.5
p.M433I
c.1299G>C
1 paper
NM_024007.5
p.M433I
c.1299G>A
1 paper
NM_024007.5
p.M434fs
c.1300_1301fs
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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."