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.D170Y

c.508G>T

Surrounding Variants

1 paper

NM_181861.2

p.D170E

c.510T>A

1 paper

NM_181861.2

p.D170E

c.510T>G

1 paper

NM_181861.2

p.A164T

c.490G>A

1 paper

NM_181861.2

p.S161C

c.482C>G

1 paper

NM_181861.2

p.S161F

c.482C>T

2 papers

NM_181861.2

p.K160R

c.479A>G

1 paper

NM_181861.2

p.W149*

c.447G>A

1 paper

NM_181861.2

p.W149*

c.446G>A

1 paper

NM_181861.2

p.E146V

c.437A>T

1 paper

NM_181861.2

p.K144T

c.431A>C

1 paper

NM_181861.2

p.K142R

c.425A>G

1 paper

NM_181861.2

p.T112delFs

c.334delA