Varaico: Literature-Extracted Genetic Variants

Gene:E2F1
Variant:p.E397A

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.E397A
c.1190A>C
Surrounding Variants
1 paper
NM_005225.3
p.E398K
c.1192G>A
1 paper
NM_005225.3
p.P396A
c.1186C>G
1 paper
NM_005225.3
p.P396T
c.1186C>A
1 paper
NM_005225.3
p.F399_I400insC
c.1195_1199ins3
1 paper
NM_005225.3
p.F399S
c.1196T>C
1 paper
NM_005225.3
p.L394P
c.1181T>C
1 paper
NM_005225.3
p.G393A
c.1178G>C
8 papers
NM_005225.3
p.G393S
c.1177G>A
3 papers
NM_005225.3
p.S403A
c.1207T>G
1 paper
NM_005225.3
p.D390D
c.1170C>T
1 paper
NM_005225.3
p.P405L
c.1214C>T
2 papers
NM_005225.3
p.P405R
c.1214C>G
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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."