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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LBHD2

LBHD2

14q32.32 (UCSC)GTEx

2 papers

Pfam Domains

Lbhaa 29–73UCSCCardiac transcription factor regulator, Developmental protein

Gene Aliases

HGNC Name

LBH domain containing 2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr14:103086061 G>A

NM_001330236.2

p.A17T

c.49G>A

Exome: 74.2% (AC=182764, hom=68366)Genome: 66.5% (AC=101108, hom=35172)7 overlapping SVs

chr14:103089748 G>A

NM_001330236.2

p.G93D

c.278G>A

Exome: 1.1% (AC=2707, hom=23)Genome: 0.8% (AC=1286, hom=8)7 overlapping SVs

chr14:103089765 T>G

NM_001330236.2

p.S99A

c.295T>G

Exome: 39.8% (AC=97966, hom=20971)Genome: 36.5% (AC=55526, hom=10925)7 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."