Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1A
Variant:p.K75T

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.K75T
c.224A>C
Surrounding Variants
2 papers
NM_000389.5
p.K75R
c.224A>G
1 paper
NM_000389.5
p.K75_T80insFs
c.224_240dup17
1 paper
NM_000389.5
p.L76V
c.226C>G
1 paper
NM_000389.5
p.L76F
c.226C>T
1 paper
NM_000389.5
p.P74L
c.221C>T
1 paper
NM_000389.5
p.K75_L76del2
c.223_227del6
1 paper
NM_000389.5
p.L76P
c.227T>C
1 paper
NM_000389.5
p.Y77del1
c.229_230delTAC
1 paper
NM_000389.5
p.L76_Y77insFs
c.228_229insA
2 papers
NM_000389.5
p.P74A
c.220C>G
2 papers
NM_000389.5
p.L76L
c.228C>T
1 paper
NM_000389.5
p.Y77delFs
c.229delT
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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."