Varaico: Literature-Extracted Genetic Variants

Gene:E2F2
Variant:p.S133P

E2F2

126 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 130–194UCSCE2F/DP family winged-helix DNA-binding domain
E2F_CC-MBaa 210–304UCSCE2F transcription factor CC-MB domain

Gene Aliases

HGNC Name

E2F transcription factor 2

HGNC Alias Symbol

E2F-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004091.4
p.S133P
c.397T>C
Surrounding Variants
1 paper
NM_004091.4
p.G135E
c.404G>A
1 paper
NM_004091.4
p.R129Q
c.386G>A
1 paper
NM_004091.4
p.E126D
c.378G>T
1 paper
NM_004091.4
p.E126D
c.378G>C
1 paper
NM_004091.4
p.E126K
c.376G>A
1 paper
NM_004091.4
p.S123Y
c.368C>A
1 paper
NM_004091.4
p.P121L
c.362C>T
1 paper
NM_004091.4
p.P121S
c.361C>T
1 paper
NM_004091.4
p.E147V
c.440A>T
1 paper
NM_004091.4
p.D150N
c.448G>A
1 paper
NM_004091.4
p.L153V
c.457C>G
1 paper
NM_004091.4
p.D154N
c.460G>A
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