Varaico: Literature-Extracted Genetic Variants

Gene:CCND1
Variant:p.L283Q

CCND1

1,656 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 throughout the cell cycle. Cyclins functi...

Pfam Domains

Cyclin_Naa 26–153UCSCCyclin, N-terminal domain
Cyclin_Caa 155–282UCSCCyclin, C-terminal domain

Gene Aliases

HGNC Name

cyclin D1

HGNC Previous Symbols

D11S287E; PRAD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_053056.3
p.L283Q
c.848T>A
Surrounding Variants
1 paper
NM_053056.3
p.L283L
c.847C>T
1 paper
NM_053056.3
p.A284S
c.850G>T
2 papers
NM_053056.3
p.A284V
c.851C>T
1 paper
NM_053056.3
p.D282H
c.844G>C
1 paper
NM_053056.3
p.V281A
c.842T>C
7 papers
NM_053056.3
p.C285*
c.855C>A
1 paper
NM_053056.3
p.T286P
c.856A>C
68 papers
NM_053056.3
p.T286A
c.856A>G
1 paper
NM_053056.3
p.L283_D294del0
c.847_882del36
7 papers
NM_053056.3
p.E280V
c.839A>T
1 paper
NM_053056.3
p.T286K
c.857C>A
3 papers
NM_053056.3
p.T286R
c.857C>G
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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."