NF1 c.2509T>A ;(p.W837R)

Variant ID: 17-29556142-T-A

NM_001042492.2(NF1):c.2509T>A;(p.W837R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: NF1: 2509T>A; Trp837Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



PDX models of human lung squamous cell carcinoma: consideration of factors in preclinical and co-clinical applications.

Journal Of Translational Medicine
Jung, Hae-Yun HY; Kim, Tae Ho TH; Lee, Jong-Eun JE; Kim, Hong Kwan HK; Cho, Jong Ho JH; Choi, Yong Soo YS; Shin, Sumin S; Lee, Se-Hoon SH; Rhee, Hwanseok H; Lee, Hee Kyung HK; Choi, Hyun Jung HJ; Jang, Hye Yoon HY; Lee, Seungjae S; Kang, Jung Hee JH; Choi, Young Ae YA; Lee, Sanghyuk S; Lee, Jinseon J; Choi, Yoon La Y; Kim, Jhingook J
Publication Date: 2020-08-06

Variant appearance in text: NF1: W837R
PubMed Link: 32762722
Variant Present in the following documents:
  • 12967_2020_2473_MOESM4_ESM.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: NF1: 2509T>A; W837R
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: NF1: 2509T>A; W837R
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s004.xlsx, sheet 1
  • pone.0170843.s003.xlsx, sheet 1
View BVdb publication page



Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Human Genomics
Alkindy, Adila A; Chuzhanova, Nadia N; Kini, Usha U; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2012-08-13

Variant appearance in text: NF1: W837R
PubMed Link: 23244495
Variant Present in the following documents:
  • Main text
  • 1479-7364-6-12.pdf
View BVdb publication page