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.D479G

c.1436A>G

Surrounding Variants

1 paper

NM_181861.2

p.D479E

c.1437C>A

1 paper

NM_181861.2

p.D479E

c.1437C>G

1 paper

NM_181861.2

p.D479N

c.1435G>A

1 paper

NM_181861.2

p.E478G

c.1433A>G

1 paper

NM_181861.2

p.C480Y

c.1439G>A

1 paper

NM_181861.2

p.M481T

c.1442T>C

1 paper

NM_181861.2

p.M481I

c.1443G>A

1 paper

NM_181861.2

p.M481I

c.1443G>C

1 paper

NM_181861.2

p.M481I

c.1443G>T

1 paper

NM_181861.2

p.P470P

c.1410G>A

2 papers

NM_181861.2

p.Q465R

c.1394A>G

1 paper

NM_181861.2

p.Q465*

c.1393C>T