Varaico: Literature-Extracted Genetic Variants

Gene:EBF1
Variant:p.T122M

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
2 papers
NM_024007.5
p.T122M
c.365C>T
Surrounding Variants
1 paper
NM_024007.5
p.I120V
c.358A>G
1 paper
NM_024007.5
p.R129P
c.386G>C
1 paper
NM_024007.5
p.I131V
c.391A>G
1 paper
NM_024007.5
p.D132N
c.394G>A
1 paper
NM_024007.5
p.G119Splc
c.355+1G>C
1 paper
NM_024007.5
p.Q113*
c.337C>T
1 paper
NM_024007.5
p.R111W
c.331C>T
1 paper
NM_024007.5
p.G107R
c.319G>C
1 paper
NM_024007.5
p.G107R
c.319G>A
1 paper
NM_024007.5
p.N105fs
c.313_314fs
1 paper
NM_024007.5
p.E102K
c.304G>A
1 paper
NM_024007.5
p.N100fs
c.298_299fs
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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."