Varaico: Literature-Extracted Genetic Variants

Gene:E2F1
Variant:p.S126L

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.S126L
c.377C>T
Surrounding Variants
3 papers
NM_005225.3
p.K125R
c.374A>G
1 paper
NM_005225.3
p.R127R
c.381C>G
1 paper
NM_005225.3
p.P122L
c.365C>T
1 paper
NM_005225.3
p.P122R
c.365C>G
3 papers
NM_005225.3
p.S121F
c.362C>T
1 paper
NM_005225.3
p.K120N
c.360A>T
2 papers
NM_005225.3
p.K120R
c.359A>G
1 paper
NM_005225.3
p.V119E
c.356T>A
1 paper
NM_005225.3
p.N133_L134insFs
c.399_400insC
1 paper
NM_005225.3
p.G118Splc
c.353-1G>C
1 paper
NM_005225.3
p.T135T
c.405C>G
1 paper
NM_005225.3
p.K137R
c.410A>G
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