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.H157N

c.469C>A

Surrounding Variants

4 papers

NM_001375380.1

p.H157Y

c.469C>T

5 papers

NM_001375380.1

p.H157Q

c.471C>G

5 papers

NM_001375380.1

p.H157Q

c.471C>A

4 papers

NM_001375380.1

p.H157_I159ins1

c.469_477dup9

1 paper

NM_001375380.1

p.V153V

c.459G>C

1 paper

NM_001375380.1

p.C161fs

c.481_482fs

1 paper

NM_001375380.1

p.C161F

c.482G>T

1 paper

NM_001375380.1

p.C161delFs

c.481delA

1 paper

NM_001375380.1

p.R152L

c.455G>T

2 papers

NM_001375380.1

p.R152C

c.454C>T

1 paper

NM_001375380.1

p.R152G

c.454C>G

7 papers

NM_001375380.1

p.Y141C

c.422A>G