Varaico: Literature-Extracted Genetic Variants

Gene:ERBB2
Variant:p.R217H
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ERBB2

NM_004448.4:p.R217H

Associated Papers

A signal-seeking phase 2 study of Trastuzumab emtansine in tumours harbouring HER2 amplification or mutation.

Thavaneswaran S et al.

Npj Precision Oncology, 2024

Computational and Functional Analyses of HER2 Mutations Reveal Allosteric Activation Mechanisms and Altered Pharmacologic Effects.

Ishiyama N et al.

Cancer Research, 2023

35503682 (PubMed )
Supplement: can-21-0940_supplementary_data_suppsd.docx

Evaluation of the Clinical Utility of Genomic Profiling to Inform Selection of Clinical Trial Therapy in Salivary Gland Cancer.

Rack S et al.

Cancers, 2022

35267442 (PubMed )
Supplement: cancers-14-01133-s001.zip › cancers-1574535-supplementary.xlsx › Supp_Table_2_-_Variants

Germline ERBB2/HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms.

Braunstein EM et al.

Cancers, 2021

34209587 (PubMed )
Supplement: cancers-13-03246-s001.zip › cancers-1247417-supplementary.xlsx › Table_S7

The dynamic landscape of BRCA1 reversion mutations from indel to SNV in a patient with ovarian cancer treated with PARP-inhibitors and immunotherapy.

Jacob SL et al.

Heliyon, 2020

32420470 (PubMed )
Supplement: mmc1.pdf

The HER2 S310F Mutant Can Form an Active Heterodimer with the EGFR, Which Can Be Inhibited by Cetuximab but Not by Trastuzumab as well as Pertuzumab.

Shin JW et al.

Biomolecules, 2019

Immune checkpoint blockade resistance-related B2M hotspot mutations in microsatellite-unstable colorectal carcinoma.

Yeon Yeon S et al.

Pathology, Research and Practice, 2019

Molecular Landscape of ERBB2/ERBB3 Mutated Colorectal Cancer.

Loree JM et al.

Journal of the National Cancer Institute, 2018

High accuracy mutation detection in leukemia on a selected panel of cancer genes.

Kalender Atak Z et al.

Plos One, 2012

22675565 (PubMed )
Supplement: pone.0038463.s007.xlsx › TableS3
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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."