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.L595V

c.1783C>G

Surrounding Variants

1 paper

NM_181861.2

p.A580D

c.1739C>A

8 papers

NM_181861.2

p.Q579*

c.1735C>T

1 paper

NM_181861.2

p.S574L

c.1721C>T

1 paper

NM_181861.2

p.E570D

c.1710G>C

1 paper

NM_181861.2

p.L568H

c.1703T>A

2 papers

NM_181861.2

p.L568F

c.1702C>T

1 paper

NM_181861.2

p.L566insFs

c.1697_1698ins13

1 paper

NM_181861.2

p.P559T

c.1675C>A

1 paper

NM_181861.2

p.R557*

c.1669C>T

1 paper

NM_181861.2

p.F547I

c.1639T>A

1 paper

NM_181861.2

p.Q545E

c.1633C>G

1 paper

NM_181861.2

p.F544I

c.1630T>A