EGF c.1066G>A ;(p.D356N)

Variant ID: 4-110880593-G-A

NM_001963.4(EGF):c.1066G>A;(p.D356N)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut
Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J
Publication Date: 2020-08

Variant appearance in text: EGF: D356N
PubMed Link: 31818908
Variant Present in the following documents:
  • gutjnl-2019-319313supp002.pdf
View BVdb publication page



Molecular modeling of LDLR aids interpretation of genomic variants.

Journal Of Molecular Medicine (Berlin, Germany)
Klee, Eric W EW; Zimmermann, Michael T MT
Publication Date: 2019-04

Variant appearance in text: EGF: D356N
PubMed Link: 30778614
Variant Present in the following documents:
  • 109_2019_1755_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: EGF: D356N
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
View BVdb publication page



Identification of integrin beta subunit mutations that alter affinity for extracellular matrix ligand.

The Journal Of Biological Chemistry
Kendall, Timmy T; Mukai, Leona L; Jannuzi, Alison L AL; Bunch, Thomas A TA
Publication Date: 2011-09-02

Variant appearance in text: EGF: D356N
PubMed Link: 21757698
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of integrin beta subunit mutations that alter heterodimer function in situ.

Molecular Biology Of The Cell
Jannuzi, Alison L AL; Bunch, Thomas A TA; West, Robert F RF; Brower, Danny L DL
Publication Date: 2004-08

Variant appearance in text: EGF: D356N
PubMed Link: 15194810
Variant Present in the following documents:
  • Main text
View BVdb publication page