Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.L103insFs

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_000076.2
p.L103insFs
c.308_309ins7
NM_001122630.2
p.L92insFs
c.275_276ins7
Surrounding Variants
1 paper
NM_001122630.2
p.L92insFs
c.274_275ins7
NM_000076.2
p.L103insFs
c.307_308ins7
1 paper
NM_001122630.2
p.L93L
c.277C>T
1 paper
NM_001362474.2
p.L104Fs
c.310_311delinsGFs
2 papers
NM_001122630.2
p.V86_L93insFs
c.256_278dup23
1 paper
NM_000076.2
p.C100insFs
c.300dupC
1 paper
NM_001122630.2
p.R90P
c.269G>C
1 paper
NM_001122630.2
p.R90H
c.269G>A
3 papers
NM_001122630.2
p.P95S
c.283C>T
1 paper
NM_001122630.2
p.C89insFs
c.265_266insCC
1 paper
NM_001122630.2
p.R88H
c.263G>A
1 paper
NM_001122630.2
p.R88C
c.262C>T
1 paper
NM_000076.2
p.R107delFs
c.321delC
NM_001122630.2
p.R96delFs
c.288delC
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