Varaico: Literature-Extracted Genetic Variants

Gene:EBF1
Variant:p.I139T

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.I139T
c.416T>C
Surrounding Variants
1 paper
NM_024007.5
p.I139M
c.417A>G
1 paper
NM_024007.5
p.Y141C
c.422A>G
1 paper
NM_024007.5
p.G143V
c.428G>T
1 paper
NM_024007.5
p.K146N
c.438G>T
1 paper
NM_024007.5
p.K146N
c.438G>C
1 paper
NM_024007.5
p.N147H
c.439A>C
1 paper
NM_024007.5
p.N147K
c.441C>G
1 paper
NM_024007.5
p.N147K
c.441C>A
1 paper
NM_024007.5
p.M150L
c.448A>T
1 paper
NM_024007.5
p.M150L
c.448A>C
1 paper
NM_024007.5
p.M150K
c.449T>A
1 paper
NM_024007.5
p.C151S
c.451T>A
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