CREBBP c.1942-165T>C

Variant ID: 16-3828348-A-G

NM_004380.2(CREBBP):c.1942-165T>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: 1942-165T>C; rs130005
PubMed Link: 33863983
Variant Present in the following documents:
  • 41698_2021_170_MOESM4_ESM.xlsx, sheet 1
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: CREBBP: 1942-165T>C; rs130005
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Genetic variants in ER cofactor genes and endometrial cancer risk.

Plos One
Li, Yuqing Y; Low, Hui-Qi HQ; Foo, Jia Nee JN; Darabi, Hatef H; Einarsdόttir, Kristjana K; Humphreys, Keith K; Spurdle, Amanda A; , ; Easton, Douglas F DF; Thompson, Deborah J DJ; Dunning, Alison M AM; Pharoah, Paul D P PD; Czene, Kamila K; Chia, Kee Seng KS; Hall, Per P; Liu, Jianjun J
Publication Date: 2012

Variant appearance in text: rs130005
PubMed Link: 22876322
Variant Present in the following documents:
  • Main text
  • pone.0042445.pdf
View BVdb publication page



Genetic variants in lipid metabolism are independently associated with multiple features of the metabolic syndrome.

Lipids In Health And Disease
Povel, Cécile M CM; Boer, Jolanda M A JM; Imholz, Sandra S; Dollé, Martijn E T ME; Feskens, Edith J M EJ
Publication Date: 2011-07-18

Variant appearance in text: rs130005
PubMed Link: 21767357
Variant Present in the following documents:
  • Main text
  • 1476-511X-10-118.pdf
View BVdb publication page