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.L333F

c.997C>T

Surrounding Variants

1 paper

NM_004208.4

p.Q332Q

c.996A>G

1 paper

NM_004208.4

p.Q332*

c.994C>T

1 paper

NM_004208.4

p.P335A

c.1003C>G

2 papers

NM_004208.4

p.P335P

c.1005C>T

1 paper

NM_004208.4

p.P335P

c.1005C>G

1 paper

NM_004208.4

p.E336_K337delins

c.1008_1009delinsAA

16 papers

NM_004208.4

p.G338E

c.1013G>A

9 papers

NM_004208.4

p.M340T

c.1019T>C

1 paper

NM_004208.4

p.A325A

c.975C>T

1 paper

NM_004208.4

p.A325S

c.973G>T

1 paper

NM_004208.4

p.R324R

c.972A>G

2 papers

NM_004208.4

p.R324Q

c.971G>A