Varaico: Literature-Extracted Genetic Variants

Gene:E2F1
Variant:p.A78P

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.A78P
c.232G>C
Surrounding Variants
2 papers
NM_005225.3
p.P79T
c.235C>A
1 paper
NM_005225.3
p.T75I
c.224C>T
1 paper
NM_005225.3
p.P81S
c.241C>T
1 paper
NM_005225.3
p.T75_R80insFs
c.224_240dup17
1 paper
NM_005225.3
p.A82A
c.246G>A
1 paper
NM_005225.3
p.P72L
c.215C>T
1 paper
NM_005225.3
p.T68_P69del2
c.202_206del6
1 paper
NM_005225.3
p.T68A
c.202A>G
1 paper
NM_005225.3
p.L63L
c.189G>A
1 paper
NM_005225.3
p.D62N
c.184G>A
1 paper
NM_005225.3
p.P61P
c.183T>G
1 paper
NM_005225.3
p.D60A
c.179A>C
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