Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: ACTB: 587G>A; Arg196His

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: ACTB: 587G>A; Arg196His

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4
• pcbi.1010013.s002.xlsx, sheet 2

View BVdb publication page

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Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser-Winter Cerebrofrontofacial Syndrome.

Frontiers In Genetics

Nie, Kailai K; Huang, Junting J; Liu, Longqian L; Lv, Hongbin H; Chen, Danian D; Fan, Wei W

Publication Date: 2022

Variant appearance in text: ACTB: Arg196His

PubMed Link: 35401677

Variant Present in the following documents:

• Main text
• fgene-13-828120.pdf

View BVdb publication page

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Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Molecular Medicine (Cambridge, Mass.)

Seo, Go Hun GH; Lee, Hane H; Lee, Jungsul J; Han, Heonjong H; Cho, You Kyung YK; Kim, Minji M; Choi, Yunha Y; Choi, Jeongmin J; Choi, In Hee IH; Rhie, Seonkyeong S; Chae, Kyu Young KY; Kim, Yoo-Mi YM; Cheon, Chong Kun CK; Kim, Su Jin SJ; Lee, Jieun J; Kang, Eungu E; Byeon, Jung Hye JH; Yu, Hee Joon HJ; Shin, Young-Lim YL; Oh, Arum A; Kim, Woo Jin WJ; Yum, Mi-Sun MS; Lee, Beom Hee BH; Eun, Baik-Lin BL

Publication Date: 2022-03-26

Variant appearance in text: ACTB: 587G>A; Arg196His

PubMed Link: 35346031

Variant Present in the following documents:

• 10020_2022_464_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: ACTB: R196H

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.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: ACTB: R196H

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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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: ACTB: R196H

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ACTB: 587G>A; Arg196His

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.

Molecular Syndromology

Sandestig, Anna A; Green, Anna A; Jonasson, Jon J; Vogt, Hartmut H; Wahlström, Johan J; Pepler, Alexander A; Ellnebo, Katarina K; Biskup, Saskia S; Stefanova, Margarita M

Publication Date: 2019-01

Variant appearance in text: ACTB: 587G>A; Arg196His

PubMed Link: 30733661

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Nature Communications

Latham, Sharissa L SL; Ehmke, Nadja N; Reinke, Patrick Y A PYA; Taft, Manuel H MH; Eicke, Dorothee D; Reindl, Theresia T; Stenzel, Werner W; Lyons, Michael J MJ; Friez, Michael J MJ; Lee, Jennifer A JA; Hecker, Ramona R; Frühwald, Michael C MC; Becker, Kerstin K; Neuhann, Teresa M TM; Horn, Denise D; Schrock, Evelin E; Niehaus, Indra I; Sarnow, Katharina K; Grützmann, Konrad K; Gawehn, Luzie L; Klink, Barbara B; Rump, Andreas A; Chaponnier, Christine C; Figueiredo, Constanca C; Knöfler, Ralf R; Manstein, Dietmar J DJ; Di Donato, Nataliya N

Publication Date: 2018-10-12

Variant appearance in text: ACTB: Arg196His

PubMed Link: 30315159

Variant Present in the following documents:

• 41467_2018_Article_6713.pdf

View BVdb publication page

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: ACTB: 587G>A; R196H

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s021.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ACTB: 587G>A; Arg196His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs281875334

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ACTB: R196H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

European Journal Of Human Genetics : Ejhg

Verloes, Alain A; Di Donato, Nataliya N; Masliah-Planchon, Julien J; Jongmans, Marjolijn M; Abdul-Raman, Omar A OA; Albrecht, Beate B; Allanson, Judith J; Brunner, Han H; Bertola, Debora D; Chassaing, Nicolas N; David, Albert A; Devriendt, Koen K; Eftekhari, Pirayeh P; Drouin-Garraud, Valérie V; Faravelli, Francesca F; Faivre, Laurence L; Giuliano, Fabienne F; Guion Almeida, Leina L; Juncos, Jorge J; Kempers, Marlies M; Eker, Hatice Koçak HK; Lacombe, Didier D; Lin, Angela A; Mancini, Grazia G; Melis, Daniela D; Lourenço, Charles Marques CM; Siu, Victoria Mok VM; Morin, Gilles G; Nezarati, Marjan M; Nowaczyk, Malgorzata J M MJ; Ramer, Jeanette C JC; Osimani, Sara S; Philip, Nicole N; Pierpont, Mary Ella ME; Procaccio, Vincent V; Roseli, Zeichi-Seide ZS; Rossi, Massimiliano M; Rusu, Cristina C; Sznajer, Yves Y; Templin, Ludivine L; Uliana, Vera V; Klaus, Mirjam M; Van Bon, Bregje B; Van Ravenswaaij, Conny C; Wainer, Bruce B; Fry, Andrew E AE; Rump, Andreas A; Hoischen, Alexander A; Drunat, Séverine S; Rivière, Jean-Baptiste JB; Dobyns, William B WB; Pilz, Daniela T DT

Publication Date: 2015-03

Variant appearance in text: ACTB: 587G>A; Arg196His

PubMed Link: 25052316

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Nature Communications

Liu, Jinfeng J; McCleland, Mark M; Stawiski, Eric W EW; Gnad, Florian F; Mayba, Oleg O; Haverty, Peter M PM; Durinck, Steffen S; Chen, Ying-Jiun YJ; Klijn, Christiaan C; Jhunjhunwala, Suchit S; Lawrence, Michael M; Liu, Hanbin H; Wan, Yinan Y; Chopra, Vivek V; Yaylaoglu, Murat B MB; Yuan, Wenlin W; Ha, Connie C; Gilbert, Houston N HN; Reeder, Jens J; Pau, Gregoire G; Stinson, Jeremy J; Stern, Howard M HM; Manning, Gerard G; Wu, Thomas D TD; Neve, Richard M RM; de Sauvage, Frederic J FJ; Modrusan, Zora Z; Seshagiri, Somasekar S; Firestein, Ron R; Zhang, Zemin Z

Publication Date: 2014-05-08

Variant appearance in text: ACTB: R196H

PubMed Link: 24807215

Variant Present in the following documents:

• ncomms4830-s5.xls, sheet 1

View BVdb publication page

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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Nature Genetics

Rivière, Jean-Baptiste JB; van Bon, Bregje W M BW; Hoischen, Alexander A; Kholmanskikh, Stanislav S SS; O'Roak, Brian J BJ; Gilissen, Christian C; Gijsen, Sabine S; Sullivan, Christopher T CT; Christian, Susan L SL; Abdul-Rahman, Omar A OA; Atkin, Joan F JF; Chassaing, Nicolas N; Drouin-Garraud, Valerie V; Fry, Andrew E AE; Fryns, Jean-Pierre JP; Gripp, Karen W KW; Kempers, Marlies M; Kleefstra, Tjitske T; Mancini, Grazia M S GM; Nowaczyk, Małgorzata J M MJ; van Ravenswaaij-Arts, Conny M A CM; Roscioli, Tony T; Marble, Michael M; Rosenfeld, Jill A JA; Siu, Victoria M VM; de Vries, Bert B A BB; Shendure, Jay J; Verloes, Alain A; Veltman, Joris A JA; Brunner, Han G HG; Ross, M Elizabeth ME; Pilz, Daniela T DT; Dobyns, William B WB

Publication Date: 2012-02-26

Variant appearance in text: ACTB: 587G>A; Arg196His

PubMed Link: 22366783

Variant Present in the following documents:

• Main text
• nihms474071.pdf

View BVdb publication page

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