Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.L115del1

CDKN1C

329 papers

RefSeq Summary

This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cel...

Pfam Domains

CDIaa 32–82UCSCCyclin-dependent kinase inhibitor

Gene Aliases

HGNC Name

cyclin dependent kinase inhibitor 1C

HGNC Previous Symbols

BWCR; BWS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001122630.2
p.L115del1
c.343_345delGAG
Surrounding Variants
1 paper
NM_001122630.2
p.D116H
c.346G>C
1 paper
NM_001122630.2
p.L115R
c.344T>G
1 paper
NM_001122630.2
p.G117S
c.349G>A
1 paper
NM_001122630.2
p.S114F
c.341C>T
1 paper
NM_001122630.2
p.L118V
c.352C>G
1 paper
NM_000076.2
p.A123_L129delFs
c.367_385del19
1 paper
NM_001122630.2
p.E119K
c.355G>A
1 paper
NM_001122630.2
p.A112fs
c.334_335fs
1 paper
NM_000076.2
p.A123insFs
c.367dupG
2 papers
NM_000076.2
p.A123fs
c.367_368fs
NM_001122630.2
p.A112fs
c.334_335fs
1 paper
NM_001122630.2
p.E120*
c.358G>T
1 paper
NM_001362474.2
p.E131insFs
c.391_392insT
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