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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERO1A

Variant:p.L17M

ERO1A

14q22.1 (UCSC)OMIM GTEx

28 papers

Pfam Domains

ERO1aa 60–457UCSCEndoplasmic Reticulum Oxidoreductin 1 (ERO1)

Gene Aliases

HGNC Name

endoplasmic reticulum oxidoreductase 1 alpha

HGNC Previous Symbol

ERO1L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr14:52695433 G>T

NM_014584.3

p.L17M

c.49C>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a15 overlapping SVs

Surrounding Variants

chr14:52695371 G>A

NM_014584.3

p.C37C

c.111C>T

Exome: 0.2% (AC=2033, hom=9)Genome: 0.1% (AC=154, hom=0)15 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."