Varaico: Literature-Extracted Genetic Variants

EBF3

128 papers

RefSeq Summary

This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may...

Pfam Domains

COE1_DBDaa 17–247UCSCTranscription factor COE1 DNA-binding domain

TIGaa 263–345UCSCIPT/TIG domain

COE1_HLHaa 348–391UCSCTranscription factor COE1 helix-loop-helix domain

Gene Aliases

HGNC Name

EBF transcription factor 3

HGNC Alias Symbols

COE3; DKFZp667B0210

Papers

RefSeq ID

Protein change

DNA change

1–12 of 153 variants

13 papers

NM_001375380.1

p.R163L

c.488G>T

13 papers

NM_001375380.1

p.R163Q

c.488G>A

13 papers

NM_001375380.1

p.G171D

c.512G>A

10 papers

NM_001375380.1

p.R209W

c.625C>T

9 papers

NM_001375380.1

p.P177L

c.530C>T

8 papers

NM_001375380.1

p.R206*

c.616C>T

7 papers

NM_001375380.1

p.Y141C

c.422A>G

7 papers

NM_001375380.1

p.R209Q

c.626G>A

6 papers

NM_001375380.1

p.N66D

c.196A>G

6 papers

NM_001375380.1

p.R163W

c.487C>T

6 papers

NM_001375380.1

p.R163P

c.488G>C

6 papers

NM_001375380.1

p.K193N

c.579G>T