Varaico: Literature-Extracted Genetic Variants

Gene:PCMT1
Variant:p.V120I
Back to variants list

PCMT1

NM_001360452.2:p.V120I

Associated Papers

General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.

Tedman A et al.

Biorxiv : the Preprint Server for Biology, 2025

40964320 (PubMed )
Supplement: media-1.pdf

Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura.

Bjornsdottir G et al.

Nature Genetics, 2023

37884687 (PubMed )
Supplement: 41588_2023_1538_MOESM3_ESM.xlsx › 16-coding

Validating Amino Acid Variants in Proteogenomics Using Sequence Coverage by Multiple Reads.

Levitsky LI et al.

Journal of Proteome Research, 2022

Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Buczkowicz P et al.

Nature Genetics, 2014

24705254 (PubMed )
Supplement: NIHMS4215-supplement-10.xlsx › Supplementary_Table_3
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."