Varaico: Literature-Extracted Genetic Variants

Gene:E2F1
Variant:p.E417G

E2F1

544 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 128–192UCSCE2F/DP family winged-helix DNA-binding domain
E2F_CC-MBaa 206–299UCSCE2F transcription factor CC-MB domain

Gene Aliases

HGNC Name

E2F transcription factor 1

HGNC Previous Symbol

RBBP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005225.3
p.E417G
c.1250A>G
Surrounding Variants
1 paper
NM_005225.3
p.E417K
c.1249G>A
1 paper
NM_005225.3
p.E416D
c.1248G>T
1 paper
NM_005225.3
p.G418R
c.1252G>C
1 paper
NM_005225.3
p.E416D
c.1248G>C
1 paper
NM_005225.3
p.G420D
c.1259G>A
1 paper
NM_005225.3
p.H412P
c.1235A>C
2 papers
NM_005225.3
p.Y411*
c.1233C>G
2 papers
NM_005225.3
p.Y411*
c.1233C>A
5 papers
NM_005225.3
p.Y411C
c.1232A>G
1 paper
NM_005225.3
p.D423D
c.1269C>T
1 paper
NM_005225.3
p.L424R
c.1271T>G
1 paper
NM_005225.3
p.D410Y
c.1228G>T
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