Varaico: Literature-Extracted Genetic Variants

EBF4

26 papers

RefSeq Summary

EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 121...

Pfam Domains

COE1_DBDaa 18–248UCSCTranscription factor COE1 DNA-binding domain

TIGaa 256–338UCSCIPT/TIG domain

COE1_HLHaa 341–384UCSCTranscription factor COE1 helix-loop-helix domain

Gene Aliases

HGNC Name

EBF family member 4

HGNC Alias Symbols

KIAA1442; COE4; RP5-860F19.3; O/E-4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 24 variants

1 paper

NM_001110514.2

p.R110H

c.329G>A

1 paper

NM_001395167.1

p.F55delFs

c.165delT

1 paper

NM_001110514.2

p.E184V

c.551A>T

1 paper

NM_001395167.1

p.D92N

c.274G>A

1 paper

NM_001395167.1

p.R122W

c.364C>T

1 paper

NM_001395167.1

p.R153Q

c.458G>A

1 paper

NM_001395167.1

p.K190E

c.568A>G

1 paper

NM_001395167.1

p.R207K

c.620G>A

1 paper

NM_001395167.1

p.R211H

c.632G>A

1 paper

NM_001395167.1

p.V222M

c.664G>A

1 paper

NM_001395167.1

p.D231N

c.691G>A

1 paper

NM_001395167.1

p.R247H

c.740G>A