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.Q250P

c.749A>C

Surrounding Variants

1 paper

NM_004208.4

p.S249T

c.745T>A

1 paper

NM_004208.4

p.G248V

c.743G>T

1 paper

NM_145812.3

p.D243Y

c.727G>T

1 paper

NM_004208.4

p.E254K

c.760G>A

17 papers

NM_004208.4

p.V243L

c.727G>T

17 papers

NM_004208.4

p.V243L

c.727G>C

1 paper

NM_004208.4

p.M242V

c.724A>G

1 paper

NM_004208.4

p.A259G

c.776C>G

1 paper

NM_145812.3

p.N237S

c.710A>G

1 paper

NM_004208.4

p.N241D

c.721A>G

4 papers

NM_004208.4

p.D240D

c.720C>T

12 papers

NM_004208.4

p.T260A

c.778A>G