CREBBP c.3251-2583T>G

Variant ID: 16-3811556-A-C

NM_004380.2(CREBBP):c.3251-2583T>G

This variant was identified in 12 publications

View GRCh38 version.




Publications:


A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances
Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T
Publication Date: 2023

Variant appearance in text: rs886528
PubMed Link: 37215953
Variant Present in the following documents:
  • vdad043_suppl_supplementary_tables.xlsx, sheet 1
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs886528
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs886528
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs886528
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs886528
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Gene-gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non-syndromic cleft lip with or without cleft palate in Chinese case-parent trios.

American Journal Of Medical Genetics. Part A
Liu, Dongjing D; Wang, Hong H; Schwender, Holger H; Marazita, Mary L ML; Wang, Zhuqing Z; Yuan, Yuan Y; Wang, Ping P; Liang, Kung Yee KY; Wu-Chou, Yah Huei YH; Wang, Mengying M; Shi, Bing B; Zhu, Hongping H; Wu, Tao T; Beaty, Terri H TH
Publication Date: 2017-06

Variant appearance in text: rs886528
PubMed Link: 28402597
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs886528
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Gender-stratified gene and gene-treatment interactions in smoking cessation.

The Pharmacogenomics Journal
Lee, W W; Bergen, A W AW; Swan, G E GE; Li, D D; Liu, J J; Thomas, P P; Tyndale, R F RF; Benowitz, N L NL; Lerman, C C; Conti, D V DV
Publication Date: 2012-12

Variant appearance in text: rs886528
PubMed Link: 21808284
Variant Present in the following documents:
  • NIHMS305090-supplement-3.pdf
View BVdb publication page



Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study.

Bmc Medical Genetics
Lu, Wei W; Guzman, Adrian R AR; Yang, Wei W; Chapa, Claudia J CJ; Shaw, Gary M GM; Greene, Robert M RM; Pisano, M Michele MM; Lammer, Edward J EJ; Finnell, Richard H RH; Zhu, Huiping H
Publication Date: 2010-10-08

Variant appearance in text: rs886528
PubMed Link: 20932315
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-141.pdf
View BVdb publication page



In silico and in vitro comparative analysis to select, validate and test SNPs for human identification.

Bmc Genomics
Giardina, Emiliano E; Pietrangeli, Ilenia I; Martone, Claudia C; Asili, Paola P; Predazzi, Irene I; Marsala, Patrizio P; Gabriele, Luciano L; Pipolo, Claudio C; Ricci, Omero O; Solla, Gianluca G; Sineo, Luca L; Spinella, Aldo A; Novelli, Giuseppe G
Publication Date: 2007-12-12

Variant appearance in text: rs886528
PubMed Link: 18076761
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between common variation in 120 candidate genes and breast cancer risk.

Plos Genetics
Pharoah, Paul D P PD; Tyrer, Jonathan J; Dunning, Alison M AM; Easton, Douglas F DF; Ponder, Bruce A J BA; ,
Publication Date: 2007-03-16

Variant appearance in text: rs886528
PubMed Link: 17367212
Variant Present in the following documents:
View BVdb publication page



Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.

American Journal Of Human Genetics
Barnby, Gabrielle G; Abbott, Aaron A; Sykes, Nuala N; Morris, Andrew A; Weeks, Daniel E DE; Mott, Richard R; Lamb, Janine J; Bailey, Anthony J AJ; Monaco, Anthony P AP; ,
Publication Date: 2005-06

Variant appearance in text: rs886528
PubMed Link: 15830322
Variant Present in the following documents:
  • Main text
View BVdb publication page