Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.S130A

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
7 papers
NM_000389.5
p.S130A
c.388T>G
Surrounding Variants
1 paper
NM_000389.5
p.S130_D136delFs
c.389_408del20
1 paper
NM_000389.5
p.S130S
c.390C>T
3 papers
NM_000389.5
p.G129E
c.386G>A
1 paper
NM_000389.5
p.P131_G132insGG
c.391_395ins6
1 paper
NM_000389.5
p.G129insFs
c.387dupG
2 papers
NM_000389.5
p.P131R
c.392C>G
2 papers
NM_000389.5
p.P131L
c.392C>T
2 papers
NM_000389.5
p.E128A
c.383A>C
1 paper
NM_000389.5
p.E128G
c.383A>G
1 paper
NM_000389.5
p.G132delFs
c.395delG
3 papers
NM_000389.5
p.E128K
c.382G>A
1 paper
NM_000389.5
p.G132S
c.394G>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."