Publications:

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Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Cancer Medicine

Gao, Fan F; Hu, Kai K; Zheng, Peihao P; Shi, Hui H; Ke, Xiaoyan X

Publication Date: 2023-03-27

Variant appearance in text: KRAS: 440A>G; K147R

PubMed Link: 36971051

Variant Present in the following documents:

• CAM4-12-10267-s001.xlsx, sheet 1

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KRAS: 440A>G; Lys147Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: KRAS: K147R; rs1135401776

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Genetic landscapes and curative effect of CAR T-cell immunotherapy in relapse and refractory DLBCL patients.

Blood Advances

Shi, Hui H; Zheng, Peihao P; Liu, Rui R; Xu, Teng T; Yang, Fan F; Feng, Shaomei S; Guo, Yuelu Y; Ma, Lixia L; Liu, Haidi H; Lei, Yang Y; Li, Ruiting R; Deng, Biping B; Hou, Shuling S; Li, Yang Y; Zheng, Qinlong Q; Hu, Kai K; Ke, Xiaoyan X

Publication Date: 2022-07-28

Variant appearance in text: KRAS: 440A>G; K147R

PubMed Link: 35901280

Variant Present in the following documents:

• BLOODA_ADV-2021-006845-mmc1.xlsx, sheet 2

View BVdb publication page

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Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Frontiers In Genetics

Gao, Fan F; Tian, Lei L; Shi, Hui H; Zheng, Peihao P; Wang, Jing J; Dong, Fei F; Hu, Kai K; Ke, Xiaoyan X

Publication Date: 2021

Variant appearance in text: KRAS: 440A>G; K147R

PubMed Link: 34925435

Variant Present in the following documents:

• DataSheet2.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KRAS: K147R

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: KRAS: 440A>G; Lys147Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Computational Screening and Analysis of Lung Cancer Related Non-Synonymous Single Nucleotide Polymorphisms on the Human Kirsten Rat Sarcoma Gene.

Molecules (Basel, Switzerland)

Wang, Qiankun Q; Mehmood, Aamir A; Wang, Heng H; Xu, Qin Q; Xiong, Yi Y; Wei, Dong-Qing DQ

Publication Date: 2019-05-21

Variant appearance in text: KRAS: K147R; rs1135401776

PubMed Link: 31117243

Variant Present in the following documents:

• Main text
• molecules-24-01951.pdf

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: KRAS: K147R

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 1
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2

View BVdb publication page

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Exome Pool-Seq in neurodevelopmental disorders.

European Journal Of Human Genetics : Ejhg

Popp, Bernt B; Ekici, Arif B AB; Thiel, Christian T CT; Hoyer, Juliane J; Wiesener, Antje A; Kraus, Cornelia C; Reis, André A; Zweier, Christiane C

Publication Date: 2017-12

Variant appearance in text: KRAS: 440A>G; Lys147Arg

PubMed Link: 29158550

Variant Present in the following documents:

• Main text
• 41431_2017_22_MOESM2_ESM.xlsx, sheet 5
• 41431_2017_22_MOESM5_ESM.xlsx, sheet 6
• 41431_2017_Article_22.pdf
• 41431_2017_22_MOESM5_ESM.xlsx, sheet 9

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SIRT2 deletion enhances KRAS-induced tumorigenesis in vivo by regulating K147 acetylation status.

Oncotarget

Song, Ha Yong HY; Biancucci, Marco M; Kang, Hong-Jun HJ; O'Callaghan, Carol C; Park, Seong-Hoon SH; Principe, Daniel R DR; Jiang, Haiyan H; Yan, Yufan Y; Satchell, Karla Fullner KF; Raparia, Kirtee K; Gius, David D; Vassilopoulos, Athanassios A

Publication Date: 2016-12-06

Variant appearance in text: KRAS: K147R

PubMed Link: 27637077

Variant Present in the following documents:

• Main text
• oncotarget-07-80336.pdf
• oncotarget-07-80336-s001.pdf

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Ubiquitination of K-Ras enhances activation and facilitates binding to select downstream effectors.

Science Signaling

Sasaki, Atsuo T AT; Carracedo, Arkaitz A; Locasale, Jason W JW; Anastasiou, Dimitrios D; Takeuchi, Koh K; Kahoud, Emily Rose ER; Haviv, Sasson S; Asara, John M JM; Pandolfi, Pier Paolo PP; Cantley, Lewis C LC

Publication Date: 2011-03-08

Variant appearance in text: K-Ras4B: K147R

PubMed Link: 21386094

Variant Present in the following documents:

• Main text

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