Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2AIP

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
1–12 of 37 variants
8 papers
NM_017632.4
p.S241_A242del1
c.723_725delTGC
4 papers
NM_017632.4
p.A242del1
c.724_725delGCA
3 papers
NM_017632.4
p.A81delFs
c.241_242delGC
3 papers
NM_017632.4
p.S241_A242del2
c.721_725del6
1 paper
NM_017632.4
p.R36R
c.108G>A
1 paper
NM_017632.4
p.Y92H
c.274T>C
1 paper
NM_017632.4
p.G106D
c.317G>A
1 paper
NM_017632.4
p.T117A
c.349A>G
1 paper
NM_017632.4
p.T117I
c.350C>T
1 paper
NM_017632.4
p.E120K
c.358G>A
1 paper
NM_017632.4
p.K149R
c.446A>G
1 paper
NM_017632.4
p.S162F
c.485C>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."