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.S162G

c.484A>G

Surrounding Variants

2 papers

NM_001375380.1

p.S162Splc

c.486-1G>A

6 papers

NM_001375380.1

p.R163W

c.487C>T

1 paper

NM_001375380.1

p.R163G

c.487C>G

13 papers

NM_001375380.1

p.R163L

c.488G>T

6 papers

NM_001375380.1

p.R163P

c.488G>C

13 papers

NM_001375380.1

p.R163Q

c.488G>A

1 paper

NM_001375380.1

p.C170F

c.509G>T

1 paper

NM_001375380.1

p.C170Y

c.509G>A

1 paper

NM_001375380.1

p.C170del1

c.508_509delACA

13 papers

NM_001375380.1

p.G171D

c.512G>A

9 papers

NM_001375380.1

p.P177L

c.530C>T

1 paper

NM_001375380.1

p.P180L

c.539C>T