CREBBP c.281C>T ;(p.P94L)

Variant ID: 16-3900815-G-A

NM_004380.2(CREBBP):c.281C>T;(p.P94L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: CREBBP: 281C>T; P94L
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: CREBBP: P94L
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



BAP1-Altered Malignant Pleural Mesothelioma: Outcomes With Chemotherapy, Immune Check-Point Inhibitors and Poly(ADP-Ribose) Polymerase Inhibitors.

Frontiers In Oncology
Dudnik, Elizabeth E; Bar, Jair J; Moore, Assaf A; Gottfried, Teodor T; Moskovitz, Mor M; Dudnik, Julia J; Shochat, Tzippy T; Allen, Aaron M AM; Zer, Alona A; Rotem, Ofer O; Peled, Nir N; Urban, Damien D
Publication Date: 2021

Variant appearance in text: CREBBP: P94L
PubMed Link: 33777745
Variant Present in the following documents:
  • Main text
  • fonc-11-603223.pdf
View BVdb publication page



The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07

Variant appearance in text: CREBBP: 281C>T; P94L
PubMed Link: 33482222
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12

Variant appearance in text: CREBBP: 281C>T; P94L
PubMed Link: 33254023
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Tracking Neoantigens by Personalized Circulating Tumor DNA Sequencing during Checkpoint Blockade Immunotherapy in Non-Small Cell Lung Cancer.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Jia, Qingzhu Q; Chiu, Luting L; Wu, Shuangxiu S; Bai, Jian J; Peng, Lina L; Zheng, Linpeng L; Zang, Rui R; Li, Xueqin X; Yuan, Bibo B; Gao, Yixing Y; Wu, Dingyong D; Li, Xiaohong X; Wu, Lin L; Sun, Jianguo J; He, Ji J; Robinson, Bruce W S BWS; Zhu, Bo B
Publication Date: 2020-05

Variant appearance in text: CREBBP: 281C>T
PubMed Link: 32382482
Variant Present in the following documents:
  • ADVS-7-1903410-s005.xlsx, sheet 1
View BVdb publication page