Varaico: Literature-Extracted Genetic Variants

Gene:MUC5B
Variant:p.G2588R
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MUC5B

NM_002458.3:p.G2588R

Associated Papers

A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice.

Alonso-González A et al.

European Journal of Human Genetics : Ejhg, 2025

39748130 (PubMed )
Supplement: 41431_2024_1772_MOESM1_ESM.docx

Genomic landscape of hormone therapy-resistant HR-positive, HER2-negative breast cancer.

Chaubal R et al.

Breast Cancer Research and Treatment, 2025

40652157 (PubMed )
Supplement: 10549_2025_7759_MOESM2_ESM.xlsx › stable7

Steroid hormone receptors, exome sequencing and treatment responsiveness of breast cancer patient-derived xenografts originated in a South American country.

Pataccini G et al.

Scientific Reports, 2025

39827242 (PubMed )
Supplement: 41598_2025_86389_MOESM2_ESM.xlsx › Sheet1

Genetic variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis.

Jeon H et al.

Plos One, 2025

40408428 (PubMed )
Supplement: pone.0323302.s003.xlsx › Sheet1

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10487.xls › SNVIndel

Counteracting lineage-specific transcription factor network finely tunes lung adeno-to-squamous transdifferentiation through remodeling tumor immune microenvironment.

Tang S et al.

National Science Review, 2023

37051524 (PubMed )
Supplement: nwad028_supplemental_files.zip › Table_S4.xlsx › Mutations_in_LCM_samples

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t

Molecular and clinical features of papillary thyroid cancer in adult patients with a non-classical phenotype.

Zhou J et al.

Frontiers in Endocrinology, 2023

37124750 (PubMed )
Supplement: Table_6.xlsx › Sheet1

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › PT1-SNP

Clonal germinal center B cells function as a niche for T-cell lymphoma.

Fujisawa M et al.

Blood, 2022

35921527 (PubMed )
Supplement: BLOOD_BLD-2022-015451-mmc1.xlsx › supplemental_Table_6

DUSP5 and PHLDA1 mutations in mature cystic teratomas of the ovary identified on whole-exome sequencing may explain teratoma characteristics.

Wang WC et al.

Human Genomics, 2022

36289533 (PubMed )
Supplement: 40246_2022_424_MOESM1_ESM.xlsx › ___1

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.

Nazarenko MS et al.

International Journal of Molecular Sciences, 2022

36012502 (PubMed )
Supplement: ijms-23-09234-s001.zip › Supplementary_Files › Supplementary_Table_S1.xlsx › Variants__A_and_B_category

Genomic and Transcriptomic Characterization of Relapsed SCLC Through Rapid Research Autopsy.

Chen HZ et al.

Jto Clinical and Research Reports, 2021

34590014 (PubMed )
Supplement: mmc4.xlsx › T1

Germline Predisposition and Copy Number Alteration in Pre-stage Lung Adenocarcinomas Presenting as Ground-Glass Nodules.

Ren Y et al.

Frontiers in Oncology, 2019

31058088 (PubMed )
Supplement: Data_Sheet_1.PDF

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1

Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas.

Geyer FC et al.

Nature Communications, 2018

29739933 (PubMed )
Supplement: 41467_2018_4128_MOESM5_ESM.xlsx › Supplementary_Data_3

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096
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