Varaico: Literature-Extracted Genetic Variants

Gene:CIDEA
Variant:p.R48H

CIDEA

41 papers

RefSeq Summary

This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase i...

Pfam Domains

CIDE-Naa 34–109UCSCCIDE-N domain

Gene Aliases

HGNC Name

cell death inducing DFFA like effector a

HGNC Alias Symbol

CIDE-A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001279.4
p.R48H
c.143G>A
Surrounding Variants
1 paper
NM_001279.4
p.R48C
c.142C>T
1 paper
NM_001279.4
p.H42P
c.125A>C
1 paper
NM_001279.4
p.R38Q
c.113G>A
1 paper
NM_001279.4
p.I59N
c.176T>A
2 papers
NM_001279.4
p.K61*
c.181A>T
1 paper
NM_001279.4
p.P33S
c.97C>T
1 paper
NM_001279.4
p.P29L
c.86C>T
1 paper
NM_001279.4
p.V25D
c.74T>A
1 paper
NM_001279.4
p.P14S
c.40C>T
1 paper
NM_001279.4
p.L66H
c.197T>A
1 paper
NM_001279.4
p.L72L
c.214C>T
1 paper
NM_001279.4
p.D80H
c.238G>C
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