Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.L1269L
Back to variants list

FANCA

NM_000135.4:p.L1269L

Associated Papers

Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.

Handoko et al.

Scientific Reports, 2025

40594369 (PubMed )
Supplement: 41598_2025_6096_MOESM8_ESM.zip › Supp_Data_6 › S2_SNV.xlsx › s3_FANCA

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › SNU620

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.

Thompson AS et al.

Molecular Genetics & Genomic Medicine, 2021

33960719 (PubMed )
Supplement: MGG3-9-e1693-s005.docx

Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.

Wang M et al.

Respiratory Research, 2020

32054482 (PubMed )
Supplement: 12931_2020_1314_MOESM1_ESM.xlsx › S6

Screening of the FANCA gene mutational hotspots in the Pakistani fanconi anemia patients revealed 19 sequence variations.

Shahid M et al.

Congenital Anomalies, 2020

Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.

Pan ZW et al.

Frontiers in Oncology, 2019

30967997 (PubMed )
Supplement: Table_1.XLSX › Sheet1

A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Jia S et al.

Bmc Medical Genetics, 2018

29929473 (PubMed )
Supplement: 12881_2018_605_MOESM2_ESM.xlsx › raw_data

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s004.xlsx › S4

Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population.

Litim N et al.

Molecular Oncology, 2013

[Mechanisms of genomic instability in Fanconi anemia].

Itaya A et al.

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2010

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

Levran O et al.

Human Mutation, 2005

Genetics of the FANCA gene in familial pancreatic cancer.

Rogers CD et al.

Journal of Medical Genetics, 2004

[Fanconi anemia].

Bessho F

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2000

The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability.

Tachibana A et al.

Human Mutation, 1999

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."