Varaico: Literature-Extracted Genetic Variants

Gene:E2F1
Variant:p.A102_A108insFs

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.A102_A108insFs
c.304_323dup20
Surrounding Variants
1 paper
NM_005225.3
p.A108A
c.324T>A
1 paper
NM_005225.3
p.S105G
c.313A>G
1 paper
NM_005225.3
p.R113H
c.338G>A
10 papers
NM_005225.3
p.A102T
c.304G>A
1 paper
NM_005225.3
p.K117E
c.349A>G
2 papers
NM_005225.3
p.K117R
c.350A>G
2 papers
NM_005225.3
p.G118Splc
c.352+1G>A
1 paper
NM_005225.3
p.L92L
c.276G>A
1 paper
NM_005225.3
p.G118Splc
c.352+24C>T
1 paper
NM_005225.3
p.K89R
c.266A>G
2 papers
NM_005225.3
p.K89E
c.265A>G
2 papers
NM_005225.3
p.V88E
c.263T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."