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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MBD3L2B

Variant:p.R129R

MBD3L2B

19p13.2 (UCSC)GTEx

2 papers

Pfam Domains

MBDaaa 28–98UCSCp55-binding region of Methyl-CpG-binding domain proteins MBD

MBD_Caa 102–193UCSCC-terminal domain of methyl-CpG binding protein 2 and 3

Gene Aliases

HGNC Name

methyl-CpG binding domain protein 3 like 2B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr19:7019389 T>C

NM_001364674.2

p.R129R

c.387A>G

Exome: 0.1% (AC=386, hom=2)Genome: 0.1% (AC=127, hom=0)12 overlapping SVs

Surrounding Variants

chr19:7019174 C>T

NM_001364674.2

p.R201Q

c.602G>A

Exome: 0.0% (AC=97, hom=0)Genome: 0.0% (AC=75, hom=0)12 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."