NF1 c.4544A>G ;(p.Q1515R)

Variant ID: 17-29587500-A-G

NM_001042492.2(NF1):c.4544A>G;(p.Q1515R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.

The Journal Of Biological Chemistry
Hirata, Yasuko Y; Brems, Hilde H; Suzuki, Mayu M; Kanamori, Mitsuhiro M; Okada, Masahiro M; Morita, Rimpei R; Llano-Rivas, Isabel I; Ose, Toyoyuki T; Messiaen, Ludwine L; Legius, Eric E; Yoshimura, Akihiko A
Publication Date: 2016-02-12

Variant appearance in text: NF1: Q1515R
PubMed Link: 26635368
Variant Present in the following documents:
  • Main text
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