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

1 paper

NM_001375380.1

p.E96_K97delFs

c.288_291del4

Surrounding Variants

1 paper

NM_001375380.1

p.K97_E98Splc

c.291+1G>A

1 paper

NM_001375380.1

p.K97fs

c.289_290fs

3 papers

NM_001375380.1

p.E94_K95delFs

c.280_283del4

5 papers

NM_001375380.1

p.E94fs

c.280_281fs

1 paper

NM_001375380.1

p.D91delFs

c.271delC

1 paper

NM_001375380.1

p.D91fs

c.271_272fs

2 papers

NM_001375380.1

p.V82delFs

c.244delC

2 papers

NM_001375380.1

p.V82fs

c.244_245fs

2 papers

NM_001375380.1

p.Q78*

c.232C>T

1 paper

NM_001375380.1

p.R77R

c.229A>C

1 paper

NM_001375380.1

p.F68I

c.202T>A

6 papers

NM_001375380.1

p.N66D

c.196A>G