Varaico: Literature-Extracted Genetic Variants

Gene:E2F1
Variant:p.T247M

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.T247M
c.740C>T
Surrounding Variants
1 paper
NM_005225.3
p.V246M
c.736G>A
1 paper
NM_005225.3
p.Y245Y
c.735C>T
1 paper
NM_005225.3
p.A244P
c.730G>C
1 paper
NM_005225.3
p.A244T
c.730G>A
4 papers
NM_005225.3
p.R252H
c.755G>A
1 paper
NM_005225.3
p.I254T
c.761T>C
1 paper
NM_005225.3
p.D256D
c.768C>T
1 paper
NM_005225.3
p.I265I
c.795C>T
1 paper
NM_005225.3
p.K266R
c.797A>G
1 paper
NM_005225.3
p.A267T
c.799G>A
1 paper
NM_005225.3
p.A267V
c.800C>T
1 paper
NM_005225.3
p.Q272H
c.816G>C
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