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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PXDC1

Variant:p.D74Y

PXDC1

6p25.2 (UCSC)GTEx

20 papers

Gene Aliases

HGNC Name

PX domain containing 1

HGNC Previous Symbol

C6orf145

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr6:3751312 C>A

NM_183373.4

p.D74Y

c.220G>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a6 overlapping SVs

Surrounding Variants

chr6:3751403 C>A

NM_183373.4

p.T43T

c.129G>T

Exome: 0.0% (AC=242, hom=4)Genome: 0.0% (AC=15, hom=0)6 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."