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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PJA2

Variant:p.A705T

PJA2

5q21.3 (UCSC)OMIM GTEx

51 papers

Pfam Domains

zf-RING_2aa 632–675UCSCRing finger domain

Gene Aliases

HGNC Name

praja ring finger ubiquitin ligase 2

HGNC Previous Symbol

RNF131

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr5:109337245 C>T

NM_014819.5

p.A705T

c.2113G>A

Exome: 25.2% (AC=367541, hom=50123)Genome: 23.6% (AC=35835, hom=4816)82 overlapping SVs

Surrounding Variants

chr5:109344738 G>A

NM_014819.5

p.L616F

c.1846C>T

exact variant not in gnomAD84 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."