ENG c.320T>G ;(p.L107R)

Variant ID: 9-130592006-A-C

NM_001114753.2(ENG):c.320T>G;(p.L107R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Specific detection of dengue and Zika virus antibodies using envelope proteins with mutations in the conserved fusion loop.

Emerging Microbes & Infections
Rockstroh, Alexandra A; Moges, Beyene B; Barzon, Luisa L; Sinigaglia, Alessandro A; Palù, Giorgio G; Kumbukgolla, Widuranga W; Schmidt-Chanasit, Jonas J; Sarno, Manoel M; Brites, Carlos C; Moreira-Soto, Andres A; Drexler, Jan Felix JF; Ferreira, Orlando C OC; Ulbert, Sebastian S
Publication Date: 2017-11-08

Variant appearance in text: END: L107R
PubMed Link: 29116222
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: HHT1: L107R
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: ENG: L107R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Journal Of Medical Genetics
Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M
Publication Date: 2006-09

Variant appearance in text: ENG: L107R
PubMed Link: 16690726
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics
Abdalla, S A SA; Letarte, M M
Publication Date: 2006-02

Variant appearance in text:
PubMed Link: 15879500
Variant Present in the following documents:
  • Main text
View BVdb publication page