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

1–12 of 208 variants

9 papers

NM_181861.2

p.E777K

c.2329G>A

8 papers

NM_181861.2

p.Q579*

c.1735C>T

4 papers

NM_181861.2

p.C450W

c.1350C>G

3 papers

NM_181861.2

p.D443N

c.1327G>A

3 papers

NM_181861.2

p.N782T

c.2345A>C

2 papers

NM_181861.2

p.D27A

c.80A>C

2 papers

NM_181861.2

p.K160R

c.479A>G

2 papers

NM_181861.2

p.S238F

c.713C>T

2 papers

NM_181861.2

p.L261F

c.781C>T

2 papers

NM_181861.2

p.P335R

c.1004C>G

2 papers

NM_181861.2

p.L415P

c.1244T>C

2 papers

NM_181861.2

p.Q465R

c.1394A>G