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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEC14L6

Variant:p.S15L

SEC14L6

22q12.2 (UCSC)GTEx

23 papers

Pfam Domains

CRAL_TRIOaa 28–189UCSCCRAL/TRIO domain

Gene Aliases

HGNC Name

SEC14 like lipid binding 6

HGNC Previous Names

SEC14-like 6 (S. cerevisiae); SEC14-like 6; SEC14-like lipid binding 6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr22:30546639 G>A

NM_001193336.4

p.S15L

c.44C>T

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=8, hom=0)3 overlapping SVs

Surrounding Variants

chr22:30538899 G>A

NM_001193336.4

p.R20W

c.58C>T

Exome: 0.5% (AC=7127, hom=42)Genome: 0.5% (AC=745, hom=5)4 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."