CREBBP c.4133+214C>A

Variant ID: 16-3790186-G-T

NM_004380.2(CREBBP):c.4133+214C>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs11076785
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Publication Date: 2021-04-16

Variant appearance in text: CREBBP: 4133+214C>A; rs11076785
PubMed Link: 33863983
Variant Present in the following documents:
  • 41698_2021_170_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Modifiers of Patent Ductus Arteriosus in Term Infants.

The Journal Of Pediatrics
Patel, Priti M PM; Momany, Allison M AM; Schaa, Kendra L KL; Romitti, Paul A PA; Druschel, Charlotte C; Cooper, Margaret E ME; Marazita, Mary L ML; Murray, Jeffrey C JC; Dagle, John M JM
Publication Date: 2016-09

Variant appearance in text: rs11076785
PubMed Link: 27344223
Variant Present in the following documents:
  • Main text
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: rs11076785
PubMed Link: 20932315
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-141.pdf
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: rs11076785
PubMed Link: 17367212
Variant Present in the following documents:
View BVdb publication page