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.E1015K

c.3043G>A

Surrounding Variants

1 paper

NM_181861.2

p.W1007insFs

c.3020_3021insC

1 paper

NM_181861.2

p.W1007insFs

c.3019_3020insC

1 paper

NM_181861.2

p.A1025D

c.3074C>A

1 paper

NM_181861.2

p.H1002R

c.3005A>G

1 paper

NM_181861.2

p.Q1001K

c.3001C>A

1 paper

NM_181861.2

p.A984T

c.2950G>A

1 paper

NM_181861.2

p.Q963*

c.2887C>T

1 paper

NM_181861.2

p.T953A

c.2857A>G

1 paper

NM_181861.2

p.G951E

c.2852G>A

1 paper

NM_181861.2

p.Q947K

c.2839C>A

1 paper

NM_181861.2

p.M921T

c.2762T>C

1 paper

NM_181861.2

p.K916R

c.2747A>G