Publications:

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2022-02

Variant appearance in text: ACTA2: 767G>A; R256H

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2021-07-13

Variant appearance in text: ACTA2: 767G>A; R256H

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.

Human Molecular Genetics

Burger, Joyce J; Bogunovic, Natalija N; de Wagenaar, Nathalie P NP; Liu, Hui H; van Vliet, Nicole N; IJpma, Arne A; Maugeri, Alessandra A; Micha, Dimitra D; Verhagen, Hence J M HJM; Ten Hagen, Timo L M TLM; Majoor-Krakauer, Danielle D; van der Pluijm, Ingrid I; Essers, Jeroen J; Yeung, Kak K KK

Publication Date: 2021-11-16

Variant appearance in text: ACTA2: R256H

PubMed Link: 34244757

Variant Present in the following documents:

• Main text
• ddab190.pdf

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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: ACTA2: R256H

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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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: ACTA2: 767G>A; R256H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Mutant vascular actin is a TAAD misbehaving.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Rubenstein, Peter A PA; Wen, Kuo-kuang KK

Publication Date: 2015-08-04

Variant appearance in text: ACTA2: R256H

PubMed Link: 26204915

Variant Present in the following documents:

• Main text

View BVdb publication page

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Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Lu, Hailong H; Fagnant, Patricia M PM; Bookwalter, Carol S CS; Joel, Peteranne P; Trybus, Kathleen M KM

Publication Date: 2015-08-04

Variant appearance in text: ACTA2: R256H

PubMed Link: 26153420

Variant Present in the following documents:

• Main text

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: ACTA2: R256H

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

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Thoracic aortic aneurysm (TAAD)-causing mutation in actin affects formin regulation of polymerization.

The Journal Of Biological Chemistry

Malloy, Lindsey E LE; Wen, Kuo-Kuang KK; Pierick, Alyson R AR; Wedemeyer, Elesa W EW; Bergeron, Sarah E SE; Vanderpool, Nicole D ND; McKane, Melissa M; Rubenstein, Peter A PA; Bartlett, Heather L HL

Publication Date: 2012-08-17

Variant appearance in text: ACTA2: R256H

PubMed Link: 22753406

Variant Present in the following documents:

• Main text

View BVdb publication page

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