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_145812.3

p.L340P

c.1019T>C

Surrounding Variants

19 papers

NM_004208.4

p.L344F

c.1030C>T

NM_001130846.4

p.L5F

c.13C>T

1 paper

NM_004208.4

p.P345P

c.1035C>T

1 paper

NM_004208.4

p.P345P

c.1035C>G

1 paper

NM_004208.4

p.E346K

c.1036G>A

1 paper

NM_004208.4

p.K342K

c.1026G>A

9 papers

NM_004208.4

p.M340T

c.1019T>C

6 papers

NM_004208.4

p.S349G

c.1045A>G

2 papers

NM_004208.4

p.S349S

c.1047C>T

16 papers

NM_004208.4

p.G338E

c.1013G>A

1 paper

NM_004208.4

p.N350I

c.1049A>T

1 paper

NM_004208.4

p.E336_K337delins

c.1008_1009delinsAA

1 paper

NM_004208.4

p.T352T

c.1056C>T