Varaico: Literature-Extracted Genetic Variants

Gene:CCNE1
Variant:p.I246V

CCNE1

454 papers

RefSeq Summary

The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function ...

Pfam Domains

Cyclin_Naa 115–242UCSCCyclin, N-terminal domain
Cyclin_Caa 244–366UCSCCyclin, C-terminal domain

Gene Aliases

HGNC Name

cyclin E1

HGNC Alias Names

cyclin Es; cyclin Et

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001238.4
p.I246V
c.736A>G
Surrounding Variants
1 paper
NM_001238.4
p.I246N
c.737T>A
1 paper
NM_001238.4
p.I246T
c.737T>C
1 paper
NM_001238.4
p.T245I
c.734C>T
1 paper
NM_001238.4
p.V247L
c.739G>C
1 paper
NM_001238.4
p.V247L
c.739G>T
1 paper
NM_001238.4
p.S248F
c.743C>T
1 paper
NM_001238.4
p.W249_Y253del0
c.746_757del12
6 papers
NM_001238.4
p.R240H
c.719G>A
2 papers
NM_001238.4
p.R240P
c.719G>C
1 paper
NM_001238.4
p.N251K
c.753T>A
1 paper
NM_001238.4
p.N251K
c.753T>G
4 papers
NM_001238.4
p.R240C
c.718C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."