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

4 papers

NM_181861.2

p.C450W

c.1350C>G

Surrounding Variants

1 paper

NM_181861.2

p.T446S

c.1336A>T

3 papers

NM_181861.2

p.D443N

c.1327G>A

1 paper

NM_181861.2

p.R434C

c.1300C>T

1 paper

NM_181861.2

p.F433insFs

c.1297_1298insT

2 papers

NM_181861.2

p.L415P

c.1244T>C

1 paper

NM_181861.2

p.C401R

c.1201T>C

1 paper

NM_181861.2

p.L375P

c.1124T>C

1 paper

NM_181861.2

p.I370V

c.1108A>G

1 paper

NM_181861.2

p.L364V

c.1090C>G

1 paper

NM_181861.2

p.S357L

c.1070C>T

1 paper

NM_181861.2

p.K351N

c.1053G>C

1 paper

NM_181861.2

p.K351N

c.1053G>T