Varaico: Literature-Extracted Genetic Variants

Gene:FHL5
Variant:p.S243R
Back to variants list

FHL5

NM_001322466.2:p.S243R

Associated Papers

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Rubino E et al.

Alzheimer's Research & Therapy, 2025

39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

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

Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor.

Winsvold BS et al.

Annals of Neurology, 2023

Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.

Tanisawa K et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2017

27154906 (PubMed )
Supplement: glw074_suppl_20160228_jgbs_2015_218r1_supplemantary_tables.xlsx › Table_S1

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

Scan of 977 nonsynonymous SNPs in CLL4 trial patients for the identification of genetic variants influencing prognosis.

Sellick GS et al.

Blood, 2008

Sequencing and haplotype analysis of the activator of CREM in the testis (ACT) gene in populations of fertile and infertile males.

Christensen GL et al.

Molecular Human Reproduction, 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."