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.L832*

c.2495T>A

Surrounding Variants

1 paper

NM_181861.2

p.T828I

c.2483C>T

1 paper

NM_181861.2

p.D825E

c.2475C>G

1 paper

NM_181861.2

p.F824_T837del14

c.2470_2510del42

1 paper

NM_181861.2

p.I843N

c.2528T>A

1 paper

NM_181861.2

p.S849F

c.2546C>T

1 paper

NM_181861.2

p.P850T

c.2548C>A

1 paper

NM_181861.2

p.S860Y

c.2579C>A

1 paper

NM_181861.2

p.S871L

c.2612C>T

1 paper

NM_181861.2

p.M814_A817delFs

c.2441_2450del10

1 paper

NM_181861.2

p.E795Q

c.2383G>C

3 papers

NM_181861.2

p.N782T

c.2345A>C

1 paper

NM_181861.2

p.E777D

c.2331G>C