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

2 papers

NM_004208.4

p.K199N

c.597A>C

Surrounding Variants

2 papers

NM_004208.4

p.K199N

c.597A>T

1 paper

NM_004208.4

p.K199K

c.597A>G

1 paper

NM_004208.4

p.E200K

c.598G>A

1 paper

NM_004208.4

p.K199T

c.596A>C

1 paper

NM_004208.4

p.R201K

c.602G>A

29 papers

NM_004208.4

p.R201del1

c.601_602delTCT

1 paper

NM_004208.4

p.W196L

c.587G>T

1 paper

NM_004208.4

p.Q195Q

c.585G>A

1 paper

NM_004208.4

p.F193S

c.578T>C

1 paper

NM_004208.4

p.R192Q

c.575G>A

1 paper

NM_004208.4

p.R192*

c.574C>T

1 paper

NM_004208.4

p.L191P

c.572T>C