Varaico: Literature-Extracted Genetic Variants

Gene:E2F4
Variant:p.Q112P

E2F4

137 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 18–83UCSCE2F/DP family winged-helix DNA-binding domain
E2F_CC-MBaa 100–196UCSCE2F transcription factor CC-MB domain

Gene Aliases

HGNC Name

E2F transcription factor 4

HGNC Alias Symbol

E2F-4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001950.4
p.Q112P
c.335A>C
Surrounding Variants
1 paper
NM_001950.4
p.K118K
c.354G>A
1 paper
NM_001950.4
p.I104S
c.311T>G
3 papers
NM_001950.4
p.A102_E103delFs
c.306_307delAG
1 paper
NM_001950.4
p.I98fs
c.292_293fs
1 paper
NM_001950.4
p.I98_E99delFs
c.293_296del4
1 paper
NM_001950.4
p.S75A
c.223T>G
1 paper
NM_001950.4
p.I71I
c.213C>T
1 paper
NM_001950.4
p.A46A
c.138A>G
1 paper
NM_001950.4
p.L137S
c.410T>C
1 paper
NM_001950.4
p.V140I
c.418G>A
1 paper
NM_001950.4
p.G151*
c.451G>T
1 paper
NM_001950.4
p.D42V
c.125A>T
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