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

Selected Variant

1 paper

NM_001949.5

p.Q144R

c.431A>G

Surrounding Variants

2 papers

NM_001949.5

p.S141R

c.423C>A

1 paper

NM_001949.5

p.S141R

c.423C>G

1 paper

NM_001949.5

p.S141S

c.423C>T

1 paper

NM_001949.5

p.S141R

c.421A>C

2 papers

NM_001949.5

p.D148N

c.442G>A

2 papers

NM_001949.5

p.R134*

c.400C>T

1 paper

NM_001949.5

p.G155V

c.464G>T

1 paper

NM_001949.5

p.A132E

c.395C>A

1 paper

NM_001949.5

p.S174L

c.521C>T

1 paper

NM_001949.5

p.T177insFs

c.529dupA

1 paper

NM_001949.5

p.T177fs

c.529_530fs

1 paper

NM_001949.5

p.T177M

c.530C>T