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

28 papers

NM_004208.4

p.E493V

c.1478A>T

Surrounding Variants

1 paper

NM_004208.4

p.E493E

c.1479A>G

2 papers

NM_004208.4

p.Y492C

c.1475A>G

2 papers

NM_004208.4

p.Y492H

c.1474T>C

1 paper

NM_004208.4

p.G491G

c.1473C>T

1 paper

NM_004208.4

p.I495V

c.1483A>G

1 paper

NM_004208.4

p.G491A

c.1472G>C

1 paper

NM_004208.4

p.D489D

c.1467T>C

3 papers

NM_004208.4

p.D489N

c.1465G>A

9 papers

NM_004208.4

p.V498M

c.1492G>A

1 paper

NM_004208.4

p.P488P

c.1464C>T

4 papers

NM_004208.4

p.P488L

c.1463C>T

1 paper

NM_004208.4

p.L486L

c.1458G>A