Varaico: Literature-Extracted Genetic Variants

Gene:E2F1

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
1–12 of 236 variants
10 papers
NM_005225.3
p.A102T
c.304G>A
8 papers
NM_005225.3
p.G393S
c.1177G>A
7 papers
NM_005225.3
p.R166H
c.497G>A
7 papers
NM_005225.3
p.I167V
c.499A>G
6 papers
NM_005225.3
p.S31A
c.91T>G
6 papers
NM_005225.3
p.I33S
c.98T>G
5 papers
NM_005225.3
p.Y411C
c.1232A>G
4 papers
NM_005225.3
p.R252H
c.755G>A
3 papers
NM_005225.3
p.S121F
c.362C>T
3 papers
NM_005225.3
p.K125R
c.374A>G
3 papers
NM_005225.3
p.K185R
c.554A>G
3 papers
NM_005225.3
p.V276M
c.826G>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."