Varaico: Literature-Extracted Genetic Variants

Gene:CCND1
Variant:p.Q250H

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.Q250H
c.750G>C
Surrounding Variants
1 paper
NM_053056.3
p.Q250H
c.750G>T
1 paper
NM_053056.3
p.Q250delFs
c.750delG
1 paper
NM_053056.3
p.Q250K
c.748C>A
1 paper
NM_053056.3
p.Q250E
c.748C>G
1 paper
NM_053056.3
p.Q250*
c.748C>T
1 paper
NM_053056.3
p.I251N
c.752T>A
1 paper
NM_053056.3
p.I251M
c.753C>G
2 papers
NM_053056.3
p.E252K
c.754G>A
4 papers
NM_053056.3
p.Q248*
c.742C>T
1 paper
NM_053056.3
p.L254V
c.760C>G
1 paper
NM_053056.3
p.C247Y
c.740G>A
2 papers
NM_053056.3
p.C247S
c.740G>C
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