NAGS c.1384G>C ;(p.E462Q)

Variant ID: 17-42085074-G-C

NM_153006.2(NAGS):c.1384G>C;(p.E462Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Durvalumab with platinum-pemetrexed for unresectable pleural mesothelioma: survival, genomic and immunologic analyses from the phase 2 PrE0505 trial.

Nature Medicine
Forde, Patrick M PM; Anagnostou, Valsamo V; Sun, Zhuoxin Z; Dahlberg, Suzanne E SE; Kindler, Hedy L HL; Niknafs, Noushin N; Purcell, Thomas T; Santana-Davila, Rafael R; Dudek, Arkadiusz Z AZ; Borghaei, Hossein H; Lanis, Mara M; Belcaid, Zineb Z; Smith, Kellie N KN; Balan, Archana A; White, James R JR; Cherry, Christopher C; Ashok Sivakumar, I K IK; Shao, Xiaoshan M XM; Chan, Hok Yee HY; Singh, Dipika D; Thapa, Sampriti S; Illei, Peter B PB; Pardoll, Drew M DM; Karchin, Rachel R; Velculescu, Victor E VE; Brahmer, Julie R JR; Ramalingam, Suresh S SS
Publication Date: 2021-11

Variant appearance in text: NAGS: E462Q
PubMed Link: 34750557
Variant Present in the following documents:
  • 41591_2021_1541_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Nature Communications
Mitchell, Khadijah A KA; Nichols, Noah N; Tang, Wei W; Walling, Jennifer J; Stevenson, Holly H; Pineda, Marbin M; Stefanescu, Roxana R; Edelman, Daniel C DC; Girvin, Andrew T AT; Zingone, Adriana A; Sinha, Sanju S; Bowman, Elise E; Rossi, Emily L EL; Arauz, Rony F RF; Jack Zhu, Yuelin Y; Lack, Justin J; Weingartner, Elizabeth E; Waterfall, Joshua J JJ; Pine, Sharon R SR; Simmons, John J; Meltzer, Paul P; Ryan, BrĂ­d M BM
Publication Date: 2019-12-16

Variant appearance in text: NAGS: 1384G>C; E462Q
PubMed Link: 31844068
Variant Present in the following documents:
  • 41467_2019_13732_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page