NF1 c.1733T>G ;(p.L578R)

Variant ID: 17-29550473-T-G

NM_001042492.2(NF1):c.1733T>G;(p.L578R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast Cancer.

Cancer Prevention Research (Philadelphia, Pa.)
Wang, Xia X; Kallionpää, Roope A RA; Gonzales, Patrick R PR; Chitale, Dhananjay A DA; Tousignant, Renee N RN; Crowley, Jacob P JP; Chen, Zhihua Z; Yoder, Sean J SJ; Blakeley, Jaishri O JO; Acosta, Maria T MT; Korf, Bruce R BR; Messiaen, Ludwine M LM; Tainsky, Michael A MA
Publication Date: 2018-10

Variant appearance in text: NF1: Leu578Arg
PubMed Link: 30104415
Variant Present in the following documents:
  • Main text
View BVdb publication page



Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.

Genes, Chromosomes & Cancer
Wang, Xia X; Teer, Jamie K JK; Tousignant, Renee N RN; Levin, Albert M AM; Boulware, David D; Chitale, Dhananjay A DA; Shaw, Brandon M BM; Chen, Zhihua Z; Zhang, Yonghong Y; Blakeley, Jaishri O JO; Acosta, Maria T MT; Messiaen, Ludwine M LM; Korf, Bruce R BR; Tainsky, Michael A MA
Publication Date: 2018-01

Variant appearance in text: NF1: 1733T>G; Leu578Arg
PubMed Link: 28891274
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: NF1: L578R; rs199474774
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: NF1: L578R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology
Kiel, Christina C; Serrano, Luis L
Publication Date: 2014-05-06

Variant appearance in text: NF1: L578R
PubMed Link: 24803665
Variant Present in the following documents:
  • MSB-10-5-727-s13.xls, sheet 1
View BVdb publication page