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

Selected Variant

2 papers

NM_001375380.1

p.F211L

c.633C>G

Surrounding Variants

2 papers

NM_001375380.1

p.F211L

c.633C>A

1 paper

NM_001375380.1

p.Q212K

c.634C>A

1 paper

NM_001375380.1

p.F211V

c.631T>G

2 papers

NM_001375380.1

p.F211L

c.631T>C

7 papers

NM_001375380.1

p.R209Q

c.626G>A

10 papers

NM_001375380.1

p.R209W

c.625C>T

1 paper

NM_001375380.1

p.M208insFs

c.622dupA

8 papers

NM_001375380.1

p.R206*

c.616C>T

1 paper

NM_001375380.1

p.A202V

c.605C>T

1 paper

NM_001375380.1

p.C198Y

c.593G>A

4 papers

NM_001375380.1

p.N197D

c.589A>G

6 papers

NM_001375380.1

p.K193N

c.579G>T