Varaico: Literature-Extracted Genetic Variants

EBF2

59 papers

RefSeq Summary

The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins...

Pfam Domains

COE1_DBDaa 16–246UCSCTranscription factor COE1 DNA-binding domain

TIGaa 253–335UCSCIPT/TIG domain

COE1_HLHaa 338–381UCSCTranscription factor COE1 helix-loop-helix domain

Gene Aliases

HGNC Name

EBF transcription factor 2

HGNC Alias Symbols

FLJ11500; COE2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022659.4

p.K167R

c.500A>G

Surrounding Variants

2 papers

NM_022659.4

p.E165*

c.493G>T

1 paper

NM_022659.4

p.C163del1

c.487_488delGCA

1 paper

NM_022659.4

p.C163*

c.489C>A

1 paper

NM_022659.4

p.C163S

c.488G>C

1 paper

NM_022659.4

p.R162*

c.484C>T

1 paper

NM_022659.4

p.P176L

c.527C>T

1 paper

NM_022659.4

p.S177L

c.530C>T

1 paper

NM_022659.4

p.S177*

c.530C>A

1 paper

NM_022659.4

p.C150R

c.448T>C

3 papers

NM_022659.4

p.T121K

c.362C>A

1 paper

NM_022659.4

p.R120C

c.358C>T

1 paper

NM_022659.4

p.G118Splc

c.352+60C>A