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

18 papers

NM_004208.4

p.R422W

c.1264C>T

Surrounding Variants

16 papers

NM_004208.4

p.R422Q

c.1265G>A

1 paper

NM_004208.4

p.V423I

c.1267G>A

1 paper

NM_004208.4

p.D417Y

c.1249G>T

7 papers

NM_004208.4

p.R430C

c.1288C>T

1 paper

NM_004208.4

p.E413A

c.1238A>C

1 paper

NM_004208.4

p.L412L

c.1236G>A

1 paper

NM_004208.4

p.L412L

c.1234C>T

1 paper

NM_004208.4

p.G411A

c.1232G>C

1 paper

NM_004208.4

p.G411D

c.1232G>A

1 paper

NM_004208.4

p.N432N

c.1296C>T

1 paper

NM_004208.4

p.N432K

c.1296C>G

1 paper

NM_004208.4

p.N432K

c.1296C>A