EGFR c.1613A>G ;(p.K538R)

Variant ID: 7-55229306-A-G

NM_005228.3(EGFR):c.1613A>G;(p.K538R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.

Annals Of Neurology
Vardarajan, Badri N BN; Ghani, Mahdi M; Kahn, Amanda A; Sheikh, Stephanie S; Sato, Christine C; Barral, Sandra S; Lee, Joseph H JH; Cheng, Rong R; Reitz, Christiane C; Lantigua, Rafael R; Reyes-Dumeyer, Dolly D; Medrano, Martin M; Jimenez-Velazquez, Ivonne Z IZ; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Mayeux, Richard R
Publication Date: 2015-09

Variant appearance in text: ERBB1: K538R
PubMed Link: 26101835
Variant Present in the following documents:
  • ANA-78-487.pdf
View BVdb publication page



An intracellular domain fragment of the p75 neurotrophin receptor (p75(NTR)) enhances tropomyosin receptor kinase A (TrkA) receptor function.

The Journal Of Biological Chemistry
Matusica, Dusan D; Skeldal, Sune S; Sykes, Alex M AM; Palstra, Nickless N; Sharma, Aanchal A; Coulson, Elizabeth J EJ
Publication Date: 2013-04-19

Variant appearance in text: EGFR: K538R
PubMed Link: 23471969
Variant Present in the following documents:
  • Main text
View BVdb publication page