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.F181L

c.543T>A

Surrounding Variants

1 paper

NM_004208.4

p.F181L

c.543T>G

1 paper

NM_004208.4

p.S182T

c.544T>A

1 paper

NM_004208.4

p.F181L

c.541T>C

2 papers

NM_004208.4

p.D183H

c.547G>C

1 paper

NM_004208.4

p.E178delFs

c.534delT

1 paper

NM_004208.4

p.D184G

c.551A>G

1 paper

NM_004208.4

p.D184D

c.552C>T

1 paper

NM_004208.4

p.N186D

c.556A>G

1 paper

NM_004208.4

p.V187I

c.559G>A

1 paper

NM_145812.3

p.P169L

c.506C>T

1 paper

NM_004208.4

p.P173S

c.517C>T

1 paper

NM_004208.4

p.T190T

c.570A>C