Varaico: Literature-Extracted Genetic Variants

Gene:CCND1
Variant:p.C247Y

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.C247Y
c.740G>A
Surrounding Variants
2 papers
NM_053056.3
p.C247S
c.740G>C
1 paper
NM_053056.3
p.C247F
c.740G>T
2 papers
NM_053056.3
p.C247S
c.739T>A
4 papers
NM_053056.3
p.Q248*
c.742C>T
1 paper
NM_053056.3
p.A246T
c.736G>A
1 paper
NM_053056.3
p.A246S
c.736G>T
1 paper
NM_053056.3
p.R245R
c.735G>A
1 paper
NM_053056.3
p.C247_A253del7
c.739_758del21
3 papers
NM_053056.3
p.R245Q
c.734G>A
3 papers
NM_053056.3
p.R245W
c.733C>T
1 paper
NM_053056.3
p.L244L
c.732C>A
1 paper
NM_053056.3
p.Q250K
c.748C>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."