CREBBP c.4240G>A ;(p.V1414I)

Variant ID: 16-3789619-C-T

NM_004380.2(CREBBP):c.4240G>A;(p.V1414I)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Communications Biology
Cheng, Chi-Keung CK; Yung, Yuk-Lin YL; Chan, Hoi-Yun HY; Leung, Kam-Tong KT; Chan, Kathy Y Y KYY; Leung, Alex W K AWK; Cheng, Frankie W T FWT; Li, Chi-Kong CK; Wan, Thomas S K TSK; Luo, Xi X; Pitts, Herbert-Augustus HA; Cheung, Joyce S JS; Chan, Natalie P H NPH; Ng, Margaret H L MHL
Publication Date: 2023-03-31

Variant appearance in text: CREBBP: 4240G>A; V1414I; rs130015
PubMed Link: 37002311
Variant Present in the following documents:
  • 42003_2023_4732_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology
Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X
Publication Date: 2022

Variant appearance in text: CREBBP: 4240G>A; Val1414Ile
PubMed Link: 35874768
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: CREBBP: 4240G>A; V1414I; rs130015
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



PIM1 genetic alterations associated with distinct molecular profiles, phenotypes and drug responses in diffuse large B-cell lymphoma.

Clinical And Translational Medicine
Zhang, Huilai H; Lu, Yaxiao Y; Zhang, Tingting T; Guan, Qingpei Q; Wang, Xiaoxuan X; Guo, Yixian Y; Li, Lanfang L; Qiu, Lihua L; Qian, Zhengzi Z; Zhou, Shiyong S; Gong, Wenchen W; Meng, Bin B; Ren, Xiubao X; Wang, Xianhuo X
Publication Date: 2022-04

Variant appearance in text: CREBBP: V1414I
PubMed Link: 35415904
Variant Present in the following documents:
  • CTM2-12-e808-s003.xlsx, sheet 2
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: CREBBP: V1414I; rs130015
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: CREBBP: V1414I; rs130015
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



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: CREBBP: V1414I
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: CREBBP: 4240G>A; Val1414Ile
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oncotarget
Oliveira, Duarte Mendes DM; Laudanna, Carmelo C; Migliozzi, Simona S; Zoppoli, Pietro P; Santamaria, Gianluca G; Grillone, Katia K; Elia, Laura L; Mignogna, Chiara C; Biamonte, Flavia F; Sacco, Rosario R; Corcione, Francesco F; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A
Publication Date: 2018-05-08

Variant appearance in text: rs130015
PubMed Link: 29844865
Variant Present in the following documents:
  • oncotarget-09-23960-s003.xlsx, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: CREBBP: V1414I
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



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: rs130015
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page