Varaico: Literature-Extracted Genetic Variants

Gene:DFFA
Variant:p.C165R

DFFA

87 papers

RefSeq Summary

Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and ...

Pfam Domains

CIDE-Naa 18–95UCSCCIDE-N domain
DFF-Caa 100–264UCSCDNA Fragmentation factor 45kDa, C terminal domain

Gene Aliases

HGNC Name

DNA fragmentation factor subunit alpha

HGNC Alias Symbols

DFF-45; DFF45; ICAD; DFF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004401.3
p.C165R
c.493T>C
Surrounding Variants
1 paper
NM_004401.3
p.R162C
c.484C>T
1 paper
NM_004401.3
p.Q159fs
c.475_476fs
1 paper
NM_004401.3
p.L157M
c.469C>A
1 paper
NM_004401.3
p.T174A
c.520A>G
1 paper
NM_004401.3
p.A152V
c.455C>T
2 papers
NM_004401.3
p.A152T
c.454G>A
1 paper
NM_004401.3
p.D151D
c.453C>T
1 paper
NM_004401.3
p.R186C
c.556C>T
1 paper
NM_004401.3
p.R186H
c.557G>A
1 paper
NM_004401.3
p.Q187fs
c.559_560fs
1 paper
NM_004401.3
p.K213insFs
c.638_639insA
1 paper
NM_004401.3
p.F216V
c.646T>G
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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."