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.A458A

c.1374T>C

Surrounding Variants

1 paper

NM_004208.4

p.H457H

c.1371C>T

1 paper

NM_004208.4

p.V460G

c.1379T>G

1 paper

NM_004208.4

p.H457Y

c.1369C>T

1 paper

NM_004208.4

p.D456G

c.1367A>G

4 papers

NM_004208.4

p.R463I

c.1388G>T

1 paper

NM_004208.4

p.E453*

c.1357G>T

3 papers

NM_004208.4

p.E453Q

c.1357G>C

1 paper

NM_004208.4

p.V452I

c.1354G>A

5 papers

NM_004208.4

p.A465V

c.1394C>T

15 papers

NM_004208.4

p.R451Q

c.1352G>A

1 paper

NM_004208.4

p.R450K

c.1349G>A

1 paper

NM_004208.4

p.E467E

c.1401A>G