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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UNC5D

Variant:p.G29E

UNC5D

8p12 (UCSC)OMIM GTEx

89 papers

Pfam Domains

Unc5_NetrinR_Naa 48–152UCSCNetrin receptor unc-5 N-terminal domain

I-setaa 159–249UCSCImmunoglobulin I-set domain

TSP_1aa 256–305UCSCThrombospondin type 1 domain

TSP_1aa 312–359UCSCThrombospondin type 1 domain

ZU5aa 544–639UCSCZU5 domain

UPAaa 687–826UCSCUPA domain

Gene Aliases

HGNC Name

unc-5 netrin receptor D

HGNC Alias Symbols

KIAA1777; Unc5h4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr8:35235870 G>A

NM_080872.4

p.G29E

c.86G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a17 overlapping SVs

Surrounding Variants

chr8:35235787 G>GGGGCCTCTCCCGGGCGCCCGGGGCGTGGAAGAGGAGCC

NM_080872.4

p.G2insFs

c.5_6ins38

exact variant not in gnomAD17 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."