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.A472A

c.1416T>C

Surrounding Variants

7 papers

NM_004208.4

p.A472V

c.1415C>T

1 paper

NM_004208.4

p.A473V

c.1418C>T

1 paper

NM_004208.4

p.G471E

c.1412G>A

1 paper

NM_004208.4

p.G471R

c.1411G>C

1 paper

NM_004208.4

p.G471R

c.1411G>A

1 paper

NM_004208.4

p.P475S

c.1423C>T

1 paper

NM_004208.4

p.T470S

c.1409C>G

8 papers

NM_004208.4

p.P475L

c.1424C>T

1 paper

NM_004208.4

p.T470S

c.1408A>T

1 paper

NM_004208.4

p.P475P

c.1425G>A

1 paper

NM_004208.4

p.E467E

c.1401A>G

8 papers

NM_004208.4

p.Q479R

c.1436A>G