Varaico: Literature-Extracted Genetic Variants

Gene:CCNE1
Variant:p.R175L

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.R175L
c.524G>T
Surrounding Variants
2 papers
NM_001238.4
p.R175Q
c.524G>A
3 papers
NM_001238.4
p.F172L
c.516C>A
3 papers
NM_001238.4
p.F172L
c.516C>G
1 paper
NM_001238.4
p.A178T
c.532G>A
3 papers
NM_001238.4
p.F172L
c.514T>C
1 paper
NM_001238.4
p.T179R
c.536C>G
1 paper
NM_001238.4
p.N182_V183delFs
c.544_548del5
1 paper
NM_001238.4
p.A169T
c.505G>A
1 paper
NM_001238.4
p.F166L
c.498T>A
1 paper
NM_001238.4
p.F166L
c.498T>G
1 paper
NM_001238.4
p.F166L
c.496T>C
1 paper
NM_001238.4
p.R163K
c.488G>A
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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."