Varaico: Literature-Extracted Genetic Variants

Gene:E2F1
Variant:p.I33N

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.I33N
c.98T>A
Surrounding Variants
6 papers
NM_005225.3
p.I33S
c.98T>G
1 paper
NM_005225.3
p.V34V
c.102C>T
1 paper
NM_005225.3
p.Q32K
c.94C>A
1 paper
NM_005225.3
p.S31insFs
c.91_92insT
6 papers
NM_005225.3
p.S31A
c.91T>G
1 paper
NM_005225.3
p.S30C
c.89C>G
2 papers
NM_005225.3
p.S37S
c.111C>T
1 paper
NM_005225.3
p.A38T
c.112G>A
1 paper
NM_005225.3
p.A39T
c.115G>A
1 paper
NM_005225.3
p.L27L
c.81G>A
1 paper
NM_005225.3
p.A39G
c.116C>G
1 paper
NM_005225.3
p.A39A
c.117G>C
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