Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_004208.4

p.T282A

c.844A>G

Surrounding Variants

2 papers

NM_004208.4

p.T282M

c.845C>T

2 papers

NM_004208.4

p.T282R

c.845C>G

1 paper

NM_004208.4

p.T282T

c.846G>A

1 paper

NM_004208.4

p.T281K

c.842C>A

1 paper

NM_004208.4

p.K278R

c.833A>G

1 paper

NM_004208.4

p.A273T

c.817G>A

1 paper

NM_004208.4

p.A269V

c.806C>T

2 papers

NM_004208.4

p.L267L

c.801G>A

1 paper

NM_004208.4

p.L267L

c.799C>T

1 paper

NM_004208.4

p.T263I

c.788C>T

1 paper

NM_004208.4

p.G261_G262Fs

c.782_786delinsGAAAAGFs

18 papers

NM_004208.4

p.G262S

c.784G>A