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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLYATL1B

GLYATL1B

11q12.1 (UCSC)GTEx

3 papers

Pfam Domains

Gly_acyl_tr_Naa 1–206UCSCAralkyl acyl-CoA:amino acid N-acyltransferase

Gly_acyl_tr_Caa 208–296UCSCAralkyl acyl-CoA:amino acid N-acyltransferase, C-terminal region

Gene Aliases

HGNC Name

glycine-N-acyltransferase like 1B

HGNC Previous Symbol

GLYATL1P3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr11:59087136 G>A

NM_001355566.1

p.E51K

c.151G>A

Exome: 0.7% (AC=3524, hom=29)Genome: 0.7% (AC=1020, hom=13)36 overlapping SVs

chr11:59094003 C>G

NM_001355566.1

p.S128W

c.383C>G

Exome: 0.0% (AC=12, hom=0)Genome: n/a35 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."