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.R363I

c.1088G>T

Surrounding Variants

2 papers

NM_022659.4

p.A396T

c.1186G>A

1 paper

NM_022659.4

p.L415F

c.1243C>T

1 paper

NM_022659.4

p.Q433fs

c.1297_1298fs

1 paper

NM_022659.4

p.R451H

c.1352G>A

1 paper

NM_022659.4

p.I456M

c.1368C>G

1 paper

NM_022659.4

p.R459W

c.1375C>T

1 paper

NM_022659.4

p.R459R

c.1377G>A

1 paper

NM_022659.4

p.T466M

c.1397C>T

1 paper

NM_022659.4

p.N480D

c.1438A>G

1 paper

NM_022659.4

p.S495L

c.1484C>T

1 paper

NM_022659.4

p.G497E

c.1490G>A

1 paper

NM_022659.4

p.G509E

c.1526G>A