Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2AIP
Variant:p.A242fs

CDKN2AIP

40 papers

RefSeq Summary

The protein encoded by this gene regulates the DNA damage response through several different signaling pathways. One such pathway is the p53-HDM2-p21(WAF1) pathway, which is critical to the DNA damage...

Pfam Domains

XTBDaa 19–124UCSCXRN-Two Binding Domain, XTBD
DSRM_CARFaa 431–560UCSCCDKN2A-interacting protein DSRM domain

Gene Aliases

HGNC Name

CDKN2A interacting protein

HGNC Alias Symbol

FLJ20036

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017632.4
p.A242fs
c.724_725fs
Surrounding Variants
1 paper
NM_017632.4
p.A242S
c.724G>T
4 papers
NM_017632.4
p.A242del1
c.724_725delGCA
8 papers
NM_017632.4
p.S241_A242del1
c.723_725delTGC
3 papers
NM_017632.4
p.S241_A242del2
c.721_725del6
1 paper
NM_017632.4
p.K238K
c.714A>G
1 paper
NM_017632.4
p.S250Y
c.749C>A
1 paper
NM_017632.4
p.H255N
c.763C>A
1 paper
NM_017632.4
p.V222I
c.664G>A
1 paper
NM_017632.4
p.S277P
c.829T>C
1 paper
NM_017632.4
p.G206*
c.616G>T
1 paper
NM_017632.4
p.I196I
c.588C>T
1 paper
NM_017632.4
p.A191V
c.572C>T
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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."