Varaico: Literature-Extracted Genetic Variants

Gene:AIFM1

AIFM1

207 papers

RefSeq Summary

This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the ...

Pfam Domains

Pyr_redox_2aa 1–123UCSCPyridine nucleotide-disulphide oxidoreductase
AIF_Caa 126–255UCSCApoptosis-inducing factor, mitochondrion-associated, C-term
Pyr_redoxaa 302–386UCSCPyridine nucleotide-disulphide oxidoreductase

Gene Aliases

HGNC Name

apoptosis inducing factor mitochondria associated 1

HGNC Previous Symbols

PDCD8; NAMSD; AUNX1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 449 variants
29 papers
NM_004208.4
p.R201del1
c.601_602delTCT
28 papers
NM_004208.4
p.E493V
c.1478A>T
23 papers
NM_004208.4
p.G308E
c.923G>A
18 papers
NM_004208.4
p.G262S
c.784G>A
18 papers
NM_004208.4
p.L344F
c.1030C>T
18 papers
NM_004208.4
p.R422W
c.1264C>T
17 papers
NM_004208.4
p.V243L
c.727G>T
17 papers
NM_004208.4
p.V243L
c.727G>C
16 papers
NM_004208.4
p.G338E
c.1013G>A
16 papers
NM_004208.4
p.R422Q
c.1265G>A
15 papers
NM_004208.4
p.R451Q
c.1352G>A
12 papers
NM_004208.4
p.T260A
c.778A>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."