Varaico: Literature-Extracted Genetic Variants

Gene:EBF1
Variant:p.D76V

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.D76V
c.227A>T
Surrounding Variants
1 paper
NM_024007.5
p.D76N
c.226G>A
1 paper
NM_024007.5
p.D76D
c.228C>T
1 paper
NM_024007.5
p.Q78fs
c.232_233fs
1 paper
NM_024007.5
p.Q78delFs
c.232_233delTG
1 paper
NM_024007.5
p.G79D
c.236G>A
1 paper
NM_024007.5
p.V82M
c.244G>A
2 papers
NM_024007.5
p.N66K
c.198C>G
2 papers
NM_024007.5
p.N66K
c.198C>A
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.A88fs
c.262_263fs
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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."