Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2AIP
Variant:p.F424L

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.F424L
c.1272C>G
Surrounding Variants
1 paper
NM_017632.4
p.F424L
c.1272C>A
1 paper
NM_017632.4
p.F424L
c.1270T>C
1 paper
NM_017632.4
p.E431A
c.1292A>C
1 paper
NM_017632.4
p.N441fs
c.1321_1322fs
1 paper
NM_017632.4
p.L370V
c.1108C>G
1 paper
NM_017632.4
p.T363A
c.1087A>G
1 paper
NM_017632.4
p.C503F
c.1508G>T
1 paper
NM_017632.4
p.S509F
c.1526C>T
1 paper
NM_017632.4
p.K322E
c.964A>G
1 paper
NM_017632.4
p.L534V
c.1600T>G
1 paper
NM_017632.4
p.R547W
c.1639A>T
1 paper
NM_017632.4
p.P570S
c.1708C>T
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