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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EFR3B

Variant:p.L83L

EFR3B

2p23.3 (UCSC)OMIM GTEx

53 papers

Pfam Domains

EFR3_ARMaa 47–143UCSCEFR3, armadillo repeat

Gene Aliases

HGNC Name

EFR3 homolog B

HGNC Previous Symbol

KIAA0953

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr2:25103673 G>A

NM_014971.2

p.L83L

c.249G>A

Exome: n/aGenome: 0.0% (AC=1, hom=0)76 overlapping SVs

Surrounding Variants

chr2:25103782 A>T

NM_014971.2

p.N120Y

c.358A>T

exact variant not in gnomAD76 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."