Varaico: Literature-Extracted Genetic Variants

MADD

293 papers

RefSeq Summary

Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytop...

Pfam Domains

uDENNaa 32–97UCSCuDENN domain

DENNaa 172–402UCSCDENN (AEX-3) domain

Death_MADDaa 1268–1330UCSCMAP kinase-activating death domain protein death domain

Death_MADDaa 1336–1411UCSCMAP kinase-activating death domain protein death domain

PH_MADD_penaa 1435–1534UCSCMADD penultimate PH-like domain

PH_MADDaa 1535–1576UCSCMADD C-terminal PH-like domain

Gene Aliases

HGNC Name

MAP kinase activating death domain

HGNC Alias Symbols

DENN; KIAA0358; RAB3GEP; IG20

Papers

RefSeq ID

Protein change

DNA change

1–12 of 288 variants

9 papers

NM_001376571.1

p.R766*

c.2296C>T

5 papers

NM_001376571.1

p.R99C

c.295C>T

5 papers

NM_001376571.1

p.R327*

c.979C>T

4 papers

NM_001376571.1

p.G305V

c.914G>T

4 papers

NM_001376571.1

p.P354L

c.1061C>T

3 papers

NM_001376571.1

p.G113V

c.338G>T

3 papers

NM_001376571.1

p.R198H

c.593G>A

3 papers

NM_001376571.1

p.G209S

c.625G>A

3 papers

NM_001376571.1

p.L241L

c.721C>T

3 papers

NM_001376571.1

p.K321_V322Splc

c.963+1G>A

3 papers

NM_001376571.1

p.L346P

c.1037T>C

3 papers

NM_001376571.1

p.P372L

c.1115C>T