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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERO1A

Variant:p.V101G

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

chr14:52682341 A>C

NM_014584.3

p.V101G

c.302T>G

exact variant not in gnomAD13 overlapping SVs

Surrounding Variants

chr14:52678465 A>C

NM_014584.3

p.V109G

c.326T>G

exact variant not in gnomAD13 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."