Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA1
Variant:p.R46C
Back to variants list

CHRNA1

NM_000079.4:p.R46C

Associated Papers

Case Report: Individualized circulating tumor DNA monitoring guides olaparib adjuvant therapy: an early-stage breast cancer case with somatic BRCA2 mutation.

You Q et al.

Frontiers in Oncology, 2026

41684593 (PubMed )
Supplement: Table1.xlsx › ctDNA_detection

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

Vogt J et al.

Journal of Medical Genetics, 2012

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Morgan NV et al.

American Journal of Human Genetics, 2006

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."