Varaico: Literature-Extracted Genetic Variants

E2F3

139 papers

RefSeq Summary

This gene encodes a member of a small family of transcription factors that function through binding of DP interaction partner proteins. The encoded protein recognizes a specific sequence motif in DNA ...

Pfam Domains

WHD_E2F_TDPaa 179–243UCSCE2F/DP family winged-helix DNA-binding domain

E2F_CC-MBaa 259–352UCSCE2F transcription factor CC-MB domain

Gene Aliases

HGNC Name

E2F transcription factor 3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 110 variants

6 papers

NM_001949.5

p.D389N

c.1165G>A

3 papers

NM_001949.5

p.G125S

c.373G>A

2 papers

NM_001949.5

p.M33R

c.98T>G

2 papers

NM_001949.5

p.R134*

c.400C>T

2 papers

NM_001949.5

p.S141R

c.423C>A

2 papers

NM_001949.5

p.D148N

c.442G>A

2 papers

NM_001949.5

p.V213M

c.637G>A

2 papers

NM_001949.5

p.E265K

c.793G>A

2 papers

NM_001949.5

p.C390F

c.1169G>T

1 paper

NM_001949.5

p.V14E

c.41T>A

1 paper

NM_001949.5

p.A23G

c.68C>G

1 paper

NM_001949.5

p.M33V

c.97A>G