Varaico: Literature-Extracted Genetic Variants

Gene:E2F1
Variant:p.D423D

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.D423D
c.1269C>T
Surrounding Variants
1 paper
NM_005225.3
p.L424R
c.1271T>G
1 paper
NM_005225.3
p.F425I
c.1273T>A
1 paper
NM_005225.3
p.F425C
c.1274T>G
1 paper
NM_005225.3
p.C427_D428insA
c.1279_1283ins3
1 paper
NM_005225.3
p.G420D
c.1259G>A
1 paper
NM_005225.3
p.F429C
c.1286T>G
1 paper
NM_005225.3
p.G418R
c.1252G>C
1 paper
NM_005225.3
p.E417G
c.1250A>G
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.E416D
c.1248G>C
1 paper
NM_005225.3
p.G430G
c.1290G>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."