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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LRRC28

Variant:p.L56_P57Splc

LRRC28

15q26.3 (UCSC)GTEx

18 papers

Pfam Domains

LRR_8aa 41–100UCSCLeucine rich repeat

LRR_14aa 93–214UCSCLeucine-rich repeat region

Gene Aliases

HGNC Name

leucine rich repeat containing 28

HGNC Alias Symbols

MGC24976; FLJ34269; FLJ45242

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr15:99258770 A>G

NM_144598.5

p.L56_P57Splc

c.168+2645A>G

Exome: 0.4% (AC=2138, hom=8)Genome: 0.4% (AC=536, hom=3)13 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."