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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PABIR2

Variant:p.P237L

PABIR2

Xq26.3 (UCSC)GTEx

14 papers

Pfam Domains

PABIR_Naa 58–136UCSCPABIR N-terminal helical domain

PABIR_Naa 74–153UCSCPABIR N-terminal helical domain

Gene Aliases

HGNC Name

PABIR family member 2

HGNC Previous Symbol

FAM122B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chrX:134772233 G>A

NM_001387468.1

p.P237L

c.710C>T

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)36 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."