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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LRRC69

Variant:p.D220N

LRRC69

8q21.3 (UCSC)GTEx

22 papers

Pfam Domains

LRR_8aa 37–95UCSCLeucine rich repeat

LRR_8aa 83–142UCSCLeucine rich repeat

LRR_8aa 130–188UCSCLeucine rich repeat

LRR_8aa 176–233UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 69

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr8:91189528 G>A

NM_001129890.2

p.D220N

c.658G>A

exact variant not in gnomAD29 overlapping SVs

Surrounding Variants

chr8:91189589 T>C

NM_001129890.2

p.I240T

c.719T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a29 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."