Varaico: Literature-Extracted Genetic Variants

Gene:DFFB
Variant:p.E54D

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.E54D
c.162G>C
Surrounding Variants
1 paper
NM_004402.4
p.E54D
c.162G>T
1 paper
NM_004402.4
p.E68K
c.202G>A
1 paper
NM_004402.4
p.G75S
c.223G>A
1 paper
NM_004402.4
p.Q79L
c.236A>T
1 paper
NM_004402.4
p.G80R
c.238G>C
1 paper
NM_004402.4
p.F37L
c.111C>A
1 paper
NM_004402.4
p.F37L
c.111C>G
1 paper
NM_004402.4
p.F37L
c.109T>C
1 paper
NM_004402.4
p.R31G
c.91C>G
1 paper
NM_004402.4
p.L30fs
c.88_89fs
1 paper
NM_004402.4
p.G20ins2
c.59_60ins6
1 paper
NM_004402.4
p.S15insFs
c.43_44ins17
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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."