NF1 c.4015C>T ;(p.L1339F)

Variant ID: 17-29576042-C-T

NM_001042492.2(NF1):c.4015C>T;(p.L1339F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: NF1: L1339F
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
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Distinctive mechanisms underlie the loss of SMARCB1 protein expression in renal medullary carcinoma: morphologic and molecular analysis of 20 cases.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Jia, Liwei L; Carlo, Maria I MI; Khan, Hina H; Nanjangud, Gouri J GJ; Rana, Satshil S; Cimera, Robert R; Zhang, Yanming Y; Hakimi, A Ari AA; Verma, Amit K AK; Al-Ahmadie, Hikmat A HA; Fine, Samson W SW; Gopalan, Anuradha A; Sirintrapun, S Joseph SJ; Tickoo, Satish K SK; Reuter, Victor E VE; Gartrell, Benjamin A BA; Chen, Ying-Bei YB
Publication Date: 2019-09

Variant appearance in text: NF1: L1339F
PubMed Link: 30980040
Variant Present in the following documents:
  • NIHMS1523944-supplement-1.xlsx, sheet 1
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Genomic Characterization of Renal Medullary Carcinoma and Treatment Outcomes.

Clinical Genitourinary Cancer
Carlo, Maria I MI; Chaim, Joshua J; Patil, Sujata S; Kemel, Yelena Y; Schram, Alison M AM; Woo, Kaitlin K; Coskey, Devyn D; Nanjangud, Gouri J GJ; Voss, Martin H MH; Feldman, Darren R DR; Hsieh, James J JJ; Hakimi, A Ari AA; Chen, Ying-Bei YB; Motzer, Robert J RJ; Lee, Chung-Han CH
Publication Date: 2017-12

Variant appearance in text: NF1: L1339F
PubMed Link: 28558987
Variant Present in the following documents:
  • Main text
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