Varaico: Literature-Extracted Genetic Variants

Gene:EBF1
Variant:p.N66K

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.N66K
c.198C>A
Surrounding Variants
2 papers
NM_024007.5
p.N66K
c.198C>G
1 paper
NM_024007.5
p.S65C
c.194C>G
1 paper
NM_024007.5
p.S65T
c.193T>A
1 paper
NM_024007.5
p.K64fs
c.190_191fs
1 paper
NM_024007.5
p.R63delFs
c.189delC
3 papers
NM_024007.5
p.R63Q
c.188G>A
2 papers
NM_024007.5
p.R63W
c.187C>T
1 paper
NM_024007.5
p.P59fs
c.175_176fs
1 paper
NM_024007.5
p.D76N
c.226G>A
1 paper
NM_024007.5
p.D76V
c.227A>T
1 paper
NM_024007.5
p.D76D
c.228C>T
1 paper
NM_024007.5
p.E55*
c.163G>T
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