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.K64T

c.191A>C

Surrounding Variants

2 papers

NM_001375380.1

p.R63Q

c.188G>A

6 papers

NM_001375380.1

p.N66D

c.196A>G

1 paper

NM_001375380.1

p.F68I

c.202T>A

1 paper

NM_001375380.1

p.Q57fs

c.169_170fs

1 paper

NM_001375380.1

p.E55G

c.164A>G

1 paper

NM_001375380.1

p.E55*

c.163G>T

1 paper

NM_001375380.1

p.A52delFs

c.154delC

1 paper

NM_001375380.1

p.A52fs

c.154_155fs

1 paper

NM_001375380.1

p.R77R

c.229A>C

2 papers

NM_001375380.1

p.Q78*

c.232C>T

2 papers

NM_001375380.1

p.V82fs

c.244_245fs

2 papers

NM_001375380.1

p.V82delFs

c.244delC