Varaico: Literature-Extracted Genetic Variants

Gene:E2F1
Variant:p.L358L

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.L358L
c.1072C>T
Surrounding Variants
1 paper
NM_005225.3
p.P357L
c.1070C>T
1 paper
NM_005225.3
p.R361Q
c.1082G>A
1 paper
NM_005225.3
p.A367delFs
c.1100delG
1 paper
NM_005225.3
p.E371D
c.1113G>T
1 paper
NM_005225.3
p.E371D
c.1113G>C
1 paper
NM_005225.3
p.R373R
c.1119C>T
2 papers
NM_005225.3
p.S375A
c.1123T>G
1 paper
NM_005225.3
p.A379E
c.1136C>A
1 paper
NM_005225.3
p.A380G
c.1139C>G
1 paper
NM_005225.3
p.L383I
c.1147C>A
1 paper
NM_005225.3
p.V387E
c.1160T>A
1 paper
NM_005225.3
p.D390D
c.1170C>T
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