Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.L102L

CDKN1A

1,992 papers

RefSeq Summary

This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus...

Pfam Domains

CDIaa 20–68UCSCCyclin-dependent kinase inhibitor

Gene Aliases

HGNC Name

cyclin dependent kinase inhibitor 1A

HGNC Previous Symbol

CDKN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000389.5
p.L102L
c.306G>A
Surrounding Variants
3 papers
NM_000389.5
p.G104delFs
c.311delG
1 paper
NM_000389.5
p.L102insFs
c.305dupT
1 paper
NM_000389.5
p.L101L
c.303G>A
1 paper
NM_000389.5
p.G104R
c.310G>A
1 paper
NM_000389.5
p.G104W
c.310G>T
1 paper
NM_000389.5
p.L101R
c.302T>G
1 paper
NM_000389.5
p.L102_Q103del2
c.304_308del6
1 paper
NM_000389.5
p.L101V
c.301C>G
1 paper
NM_000389.5
p.L101_T105delFs
c.302_315del14
1 paper
NM_000389.5
p.G104G
c.312G>A
1 paper
NM_000389.5
p.T105_A106insGC
c.313_317ins6
1 paper
NM_000389.5
p.T105A
c.313A>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."