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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEDD2

Variant:p.R285*

DEDD2

23 papers

RefSeq Summary

This gene encodes a nuclear-localized protein containing a death effector domain (DED). The encoded protein may regulate the trafficking of caspases and other proteins into the nucleus during death re...

Pfam Domains

DEDaa 26–108UCSCDeath effector domain

TRADD-like_Naa 222–284UCSCTRADD-like N-terminal domain

Gene Aliases

HGNC Name

death effector domain containing 2

HGNC Alias Symbol

FLAME-3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr19:42199566 G>A

NM_133328.4

p.R285*

c.853C>T

TRADD-like_N

Exome: n/aGenome: 0.0% (AC=1, hom=0)9 overlapping SVs

Surrounding Variants

1 paper

chr19:42199490 CG>C

NM_133328.4

p.R310delFs

c.928delG

exact variant not in gnomAD9 overlapping SVs

2 papers

chr19:42199478 A>G

NM_133328.4

p.M314T

c.941T>C

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=3, hom=0)9 overlapping SVs

1 paper

chr19:42199476 C>T

NM_133328.4

p.E315K

c.943G>A

Exome: 0.0% (AC=3, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr19:42199806 C>A

NM_133328.4

p.E205*

c.613G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr19:42199818 G>A

NM_133328.4

p.R201W

c.601C>T

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=2, hom=0)9 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."