Varaico: Literature-Extracted Genetic Variants

Gene:EBF1
Variant:p.V436M

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.V436M
c.1306G>A
Surrounding Variants
1 paper
NM_024007.5
p.M434delFs
c.1301delA
1 paper
NM_024007.5
p.N437I
c.1310A>T
1 paper
NM_024007.5
p.M434fs
c.1300_1301fs
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.S440I
c.1319G>T
1 paper
NM_024007.5
p.L443Q
c.1328T>A
1 paper
NM_024007.5
p.S428L
c.1283C>T
1 paper
NM_024007.5
p.A444G
c.1331C>G
1 paper
NM_024007.5
p.V445M
c.1333G>A
1 paper
NM_024007.5
p.E449K
c.1345G>A
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