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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HDDC2

Variant:p.R72C

HDDC2

6q22.31 (UCSC)GTEx

4 papers

Pfam Domains

HD_3aa 24–182UCSCHD domain

Gene Aliases

HGNC Name

HD domain containing 2

HGNC Previous Symbol

C6orf74

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr6:125298809 G>A

NM_016063.3

p.R72C

c.214C>T

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=6, hom=0)82 overlapping SVs

Surrounding Variants

chr6:125298760 G>A

NM_016063.3

p.A88V

c.263C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a82 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."