Varaico: Literature-Extracted Genetic Variants

APAF1

242 papers

RefSeq Summary

This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon bin...

Pfam Domains

CARDaa 6–90UCSCCaspase recruitment domain

NB-ARCaa 129–305UCSCNB-ARC domain

WHD_APAF1aa 378–445UCSCApoptotic protease-activating factor 1-like, winged-helix domain

APAF1_Caa 453–587UCSCAPAF-1 helical domain

WD40aa 606–643UCSCWD domain, G-beta repeat

WD40aa 647–685UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

apoptotic peptidase activating factor 1

HGNC Alias Symbols

CED4; APAF-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181861.2

p.N45S

c.134A>G

Surrounding Variants

1 paper

NM_181861.2

p.E46K

c.136G>A

1 paper

NM_181861.2

p.E41K

c.121G>A

1 paper

NM_181861.2

p.E40V

c.119A>T

1 paper

NM_181861.2

p.G33_F34insFs

c.99_100insT

1 paper

NM_181861.2

p.G33fs

c.97_98fs

1 paper

NM_181861.2

p.D32A

c.95A>C

1 paper

NM_181861.2

p.S31N

c.92G>A

2 papers

NM_181861.2

p.D27A

c.80A>C

1 paper

NM_181861.2

p.M26V

c.76A>G

1 paper

NM_181861.2

p.Y24C

c.71A>G

1 paper

NM_181861.2

p.I20M

c.60C>G

1 paper

NM_181861.2

p.I20F

c.58A>T