Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.R48L

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.R48L
c.143G>T
Surrounding Variants
1 paper
NM_000389.5
p.W49del1
c.145_146delTGG
2 papers
NM_000389.5
p.R48G
c.142C>G
7 papers
NM_000389.5
p.R48*
c.142C>T
1 paper
NM_000389.5
p.R48fs
c.142_143fs
1 paper
NM_000389.5
p.E47_R48insFs
c.141_142insC
14 papers
NM_000389.5
p.W49R
c.145T>A
2 papers
NM_000389.5
p.W49R
c.145T>C
1 paper
NM_000389.5
p.W49G
c.145T>G
2 papers
NM_000389.5
p.W49fs
c.145_146fs
1 paper
NM_000389.5
p.E47G
c.140A>G
1 paper
NM_000389.5
p.E47V
c.140A>T
3 papers
NM_000389.5
p.W49*
c.146G>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."