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

23 papers

NM_004208.4

p.G308E

c.923G>A

Surrounding Variants

1 paper

NM_004208.4

p.G307A

c.920G>C

1 paper

NM_004208.4

p.G309D

c.926G>A

1 paper

NM_004208.4

p.I306I

c.918C>T

1 paper

NM_004208.4

p.L311V

c.931C>G

1 paper

NM_004208.4

p.T304T

c.912G>A

1 paper

NM_145812.3

p.G308D

c.923G>A

1 paper

NM_004208.4

p.T304M

c.911C>T

1 paper

NM_004208.4

p.S313S

c.939C>T

1 paper

NM_004208.4

p.K301K

c.903A>G

1 paper

NM_004208.4

p.K301I

c.902A>T

1 paper

NM_004208.4

p.L315L

c.945G>T

1 paper

NM_004208.4

p.V300F

c.898G>T