Varaico: Literature-Extracted Genetic Variants

Gene:KDELR3
Variant:p.V199G
Back to variants list

KDELR3

NM_006855.4:p.V199G

Associated Papers

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.

Reeve MP et al.

Nature Genetics, 2026

Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.

Saevarsdottir S et al.

Nature Communications, 2024

38982041 (PubMed )
Supplement: 41467_2024_50007_MOESM4_ESM.xlsx › SD3

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

Ferkingstad E et al.

Nature Communications, 2018

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."