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CREBBP c.5972C>T ;(p.P1991L)
Variant ID: 16-3779076-G-A
NM_004380.2(
CREBBP
):c.5972C>T;(p.P1991L)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023
Variant appearance in text: CREBBP: 5972C>T; Pro1991Leu
PubMed Link:
36923788
Variant Present in the following documents:
Table3.xlsx, sheet 1
View BVdb publication page
Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.
Frontiers In Oncology
He, Ping P; Liu, Jie J; Xu, Qingyuan Q; Ma, Huaijun H; Niu, Beifang B; Huang, Gang G; Wu, Wei W
Publication Date: 2023
Variant appearance in text: CREBBP: 5972C>T; P1991L; rs776500881
PubMed Link:
36910641
Variant Present in the following documents:
DataSheet_1.xlsx, sheet 8
View BVdb publication page
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022
Variant appearance in text: CREBBP: P1991L
PubMed Link:
36072793
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.
Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01
Variant appearance in text: CREBBP: P1991L
PubMed Link:
34963661
Variant Present in the following documents:
supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page
Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.
Computational And Structural Biotechnology Journal
Zu, Bailing B; Zhang, Xiaoqing X; Xu, Yunlan Y; Xiang, Ying Y; Wang, Zhigang Z; Cai, Haiqing H; Wang, Bo B; You, Guoling G; Fu, Qihua Q
Publication Date: 2021
Variant appearance in text: CREBBP: 5972C>T; Pro1991Leu; rs776500881
PubMed Link:
34194672
Variant Present in the following documents:
mmc1.xlsx, sheet 4
View BVdb publication page
Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.
Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04
Variant appearance in text: CREBBP: 5972C>T; P1991L
PubMed Link:
33397889
Variant Present in the following documents:
41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page