Varaico: Literature-Extracted Genetic Variants

Gene:DFFB
Variant:p.R216L

DFFB

114 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 5–79UCSCCIDE-N domain
CIDE-Naa 5–79UCSCCIDE-N domain
DFF40aa 100–323UCSCDNA fragmentation factor 40 kDa

Gene Aliases

HGNC Name

DNA fragmentation factor subunit beta

HGNC Alias Symbols

CPAN; DFF-40; DFF40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004402.4
p.R216L
c.647G>T
Surrounding Variants
2 papers
NM_004402.4
p.P220Q
c.659C>A
1 paper
NM_004402.4
p.P220L
c.659C>T
1 paper
NM_004402.4
p.F207L
c.619T>C
1 paper
NM_004402.4
p.Y206H
c.616T>C
1 paper
NM_004402.4
p.Q227_G228Splc
c.681+5G>A
1 paper
NM_004402.4
p.Y202*
c.606C>A
1 paper
NM_004402.4
p.Y202*
c.606C>G
1 paper
NM_004402.4
p.Q201Q
c.603G>A
1 paper
NM_004402.4
p.R198R
c.592C>A
12 papers
NM_004402.4
p.R196K
c.587G>A
1 paper
NM_004402.4
p.Q195E
c.583C>G
1 paper
NM_004402.4
p.G191R
c.571G>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."