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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LRRC57

LRRC57

15q15.2 (UCSC)GTEx

3 papers

Pfam Domains

LRR_14aa 56–120UCSCLeucine-rich repeat region

LRR_8aa 131–188UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 57

HGNC Alias Symbol

FLJ36812

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr15:42548105 C>T

NM_153260.3

p.T75Splc

c.223+1G>A

exact variant not in gnomAD16 overlapping SVs

chr15:42545100 G>A

NM_153260.3

p.R219*

c.655C>T

Exome: 0.0% (AC=6, hom=0)Genome: n/a13 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."