Varaico: Literature-Extracted Genetic Variants

Gene:DFFA
Variant:p.D224E

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
3 papers
NM_004401.3
p.D224E
c.672C>G
Surrounding Variants
3 papers
NM_004401.3
p.D224E
c.672C>A
1 paper
NM_004401.3
p.G226C
c.676G>T
1 paper
NM_004401.3
p.F216V
c.646T>G
1 paper
NM_004401.3
p.D234N
c.700G>A
1 paper
NM_004401.3
p.V235I
c.703G>A
1 paper
NM_004401.3
p.K213insFs
c.638_639insA
1 paper
NM_004401.3
p.A236A
c.708G>A
1 paper
NM_004401.3
p.A238G
c.713C>G
1 paper
NM_004401.3
p.R246K
c.737G>A
1 paper
NM_004401.3
p.L255F
c.765A>T
1 paper
NM_004401.3
p.L260F
c.780G>T
1 paper
NM_004401.3
p.L260F
c.780G>C
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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."