Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.K315N
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ACVR2A

NM_001616.5:p.K315N

Associated Papers

Whole-exome sequencing and bioinformatic analyses revealed differences in gene mutation profiles in papillary thyroid cancer patients with and without benign thyroid goitre background.

Eng ZH et al.

Frontiers in Endocrinology, 2022

36686473 (PubMed )
Supplement: DataSheet_1.xlsx › Supplemetary_Table_2

Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.

Greer C et al.

Human Reproduction (oxford, England), 2021

33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SIV_DelTolVariants_MotherFather_1000GPhI.pdf

Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.

Cui Y et al.

Plos One, 2021

34478472 (PubMed )
Supplement: pone.0256979.s003.xlsx › COSMICv87_HNSCC

Sacral agenesis: a pilot whole exome sequencing and copy number study.

Porsch RM et al.

Bmc Medical Genetics, 2016

28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_3_late_met_2

Age-related mutations and chronic myelomonocytic leukemia.

Mason CC et al.

Leukemia, 2016

26648538 (PubMed )
Supplement: 41375_2016_BFleu2015337_MOESM120_ESM.xlsx › ST7

Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencing.

Patil V et al.

Oncotarget, 2015

26496030 (PubMed )
Supplement: oncotarget-06-43452-s003.xlsx › Cancer_Specific_Mutations

Generation and sequencing of pulmonary carcinoid tumor cell lines.

Asiedu MK et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2014

Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.

Wen H et al.

Bmc Cancer, 2014

24969172 (PubMed )
Supplement: 1471-2407-14-470-S2.xlsx › Shared_variants
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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."