Varaico: Literature-Extracted Genetic Variants

Gene:CCND1
Variant:p.Q49L

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
2 papers
NM_053056.3
p.Q49L
c.146A>T
Surrounding Variants
1 paper
NM_053056.3
p.Q49*
c.145C>T
4 papers
NM_053056.3
p.K50E
c.148A>G
3 papers
NM_053056.3
p.K50*
c.148A>T
1 paper
NM_053056.3
p.V48V
c.144G>A
3 papers
NM_053056.3
p.K50T
c.149A>C
2 papers
NM_053056.3
p.K50R
c.149A>G
1 paper
NM_053056.3
p.V48A
c.143T>C
2 papers
NM_053056.3
p.V48M
c.142G>A
1 paper
NM_053056.3
p.V48fs
c.142_143fs
1 paper
NM_053056.3
p.E51K
c.151G>A
1 paper
NM_053056.3
p.E51*
c.151G>T
1 paper
NM_053056.3
p.E51fs
c.151_152fs
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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."