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.A95S

c.283G>T

Surrounding Variants

1 paper

NM_001949.5

p.A91A

c.273G>T

1 paper

NM_001949.5

p.L99P

c.296T>C

1 paper

NM_001949.5

p.G90A

c.269G>C

1 paper

NM_001949.5

p.G82A

c.245G>C

1 paper

NM_001949.5

p.A78T

c.232G>A

1 paper

NM_001949.5

p.S76G

c.226A>G

1 paper

NM_001949.5

p.S72Y

c.215C>A

1 paper

NM_001949.5

p.S71C

c.212C>G

1 paper

NM_001949.5

p.S71del1

c.211_212delTCC

1 paper

NM_001949.5

p.C70_S71del1

c.210_212delTTC

1 paper

NM_001949.5

p.G129del1

c.385_386delGGC

3 papers

NM_001949.5

p.G125S

c.373G>A