Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.T79_H83delFs

CDKN2A

4,107 papers

RefSeq Summary

This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode stru...

Pfam Domains

P19Arf_Naa 4–54UCSCCyclin-dependent kinase inhibitor 2a p19Arf N-terminus

Gene Aliases

HGNC Name

cyclin dependent kinase inhibitor 2A

HGNC Previous Symbols

CDKN2; MLM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000077.5
p.T79_H83delFs
c.237_247del11
Surrounding Variants
4 papers
NM_000077.5
p.H83L
c.248A>T
21 papers
NM_000077.5
p.H83R
c.248A>G
8 papers
NM_000077.5
p.H83P
c.248A>C
1 paper
NM_000077.5
p.H83insFs
c.248_249insG
1 paper
NM_000077.5
p.P81_H83del0
c.242_247del6
1 paper
NM_000077.5
p.R80_V82del3
c.238_245del9
177 papers
NM_000077.5
p.H83Y
c.247C>T
NM_058195.4
p.A97V
c.290C>T
4 papers
NM_058195.4
p.R98*
c.292C>T
NM_000077.5
p.H83H
c.249C>T
22 papers
NM_000077.5
p.H83Q
c.249C>G
22 papers
NM_000077.5
p.H83D
c.247C>G
2 papers
NM_000077.5
p.H83_D84insFs
c.249_250insTT
5 papers
NM_000077.5
p.H83fs
c.247_248fs
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