Varaico: Literature-Extracted Genetic Variants

E2F5

56 papers

RefSeq Summary

The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is...

Pfam Domains

WHD_E2F_TDPaa 51–116UCSCE2F/DP family winged-helix DNA-binding domain

E2F_CC-MBaa 133–230UCSCE2F transcription factor CC-MB domain

Gene Aliases

HGNC Name

E2F transcription factor 5

HGNC Previous Name

E2F transcription factor 5, p130-binding

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001951.4

p.L314H

c.941T>A

Surrounding Variants

1 paper

NM_001951.4

p.V311Splc

c.932-5C>T

1 paper

NM_001951.4

p.E333*

c.997G>T

2 papers

NM_001951.4

p.I292T

c.875T>C

1 paper

NM_001951.4

p.S278C

c.833C>G

1 paper

NM_001951.4

p.E274Q

c.820G>C

1 paper

NM_001951.4

p.P259_V260insA

c.775_779ins3

1 paper

NM_001951.4

p.V239M

c.715G>A

1 paper

NM_001951.4

p.P223L

c.668C>T

1 paper

NM_001951.4

p.G222R

c.664G>A

1 paper

NM_001951.4

p.G222R

c.664G>C

1 paper

NM_001951.4

p.G195C

c.583G>T

1 paper

NM_001951.4

p.E176K

c.526G>A