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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SNX29

Variant:p.A504V

SNX29

16p13.13-p13.12 (UCSC)GTEx

55 papers

Pfam Domains

RUNaa 44–179UCSCRUN domain

PXaa 682–757UCSCPX domain

Gene Aliases

HGNC Name

sorting nexin 29

HGNC Previous Symbol

RUNDC2A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr16:12129674 C>T

NM_032167.5

p.A504V

c.1511C>T

Exome: 0.6% (AC=9168, hom=38)Genome: 0.4% (AC=627, hom=2)9 overlapping SVs

Surrounding Variants

chr16:12129673 G>A

NM_032167.5

p.A504T

c.1510G>A

Exome: 0.0% (AC=36, hom=0)Genome: 0.0% (AC=5, 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."