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

2 papers

NM_001949.5

p.E265K

c.793G>A

Surrounding Variants

1 paper

NM_001949.5

p.G258S

c.772G>A

1 paper

NM_001949.5

p.D274H

c.820G>C

1 paper

NM_001949.5

p.G251S

c.751G>A

1 paper

NM_001949.5

p.T281A

c.841A>G

1 paper

NM_001949.5

p.T288A

c.862A>G

1 paper

NM_001949.5

p.C244_G251del0

c.730_753del24

1 paper

NM_001949.5

p.E292V

c.875A>T

1 paper

NM_001949.5

p.R295Splc

c.884+34G>T

1 paper

NM_001949.5

p.M242Splc

c.725+169T>C

1 paper

NM_001949.5

p.N238S

c.713A>G

2 papers

NM_001949.5

p.V213M

c.637G>A

1 paper

NM_001949.5

p.L204*

c.611T>A