NAGS c.505A>T ;(p.M169L)

Variant ID: 17-42083083-A-T

NM_153006.2(NAGS):c.505A>T;(p.M169L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genomic Profiling of Biliary Tract Cancer Cell Lines Reveals Molecular Subtypes and Actionable Drug Targets.

Iscience
Lau, David K DK; Mouradov, Dmitri D; Wasenang, Wiphawan W; Luk, Ian Y IY; Scott, Cameron M CM; Williams, David S DS; Yeung, Yvonne H YH; Limpaiboon, Temduang T; Iatropoulos, George F GF; Jenkins, Laura J LJ; Reehorst, Camilla M CM; Chionh, Fiona F; Nikfarjam, Mehrdad M; Croagh, Daniel D; Dhillon, Amardeep S AS; Weickhardt, Andrew J AJ; Muramatsu, Toshihide T; Saito, Yoshimasa Y; Tebbutt, Niall C NC; Sieber, Oliver M OM; Mariadason, John M JM
Publication Date: 2019-11-22

Variant appearance in text: NAGS: M169L
PubMed Link: 31731200
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: NAGS: M169L
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

Annals Of Laboratory Medicine
Park, Kyoung Jin KJ; Park, Seungman S; Lee, Eunhee E; Park, Jong Ho JH; Park, June Hee JH; Park, Hyung Doo HD; Lee, Soo Youn SY; Kim, Jong Won JW
Publication Date: 2016-11

Variant appearance in text: NAGS: M169L
PubMed Link: 27578510
Variant Present in the following documents:
  • alm-36-561-s011.pdf
View BVdb publication page



Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Nature Communications
Liu, Jinfeng J; McCleland, Mark M; Stawiski, Eric W EW; Gnad, Florian F; Mayba, Oleg O; Haverty, Peter M PM; Durinck, Steffen S; Chen, Ying-Jiun YJ; Klijn, Christiaan C; Jhunjhunwala, Suchit S; Lawrence, Michael M; Liu, Hanbin H; Wan, Yinan Y; Chopra, Vivek V; Yaylaoglu, Murat B MB; Yuan, Wenlin W; Ha, Connie C; Gilbert, Houston N HN; Reeder, Jens J; Pau, Gregoire G; Stinson, Jeremy J; Stern, Howard M HM; Manning, Gerard G; Wu, Thomas D TD; Neve, Richard M RM; de Sauvage, Frederic J FJ; Modrusan, Zora Z; Seshagiri, Somasekar S; Firestein, Ron R; Zhang, Zemin Z
Publication Date: 2014-05-08

Variant appearance in text: NAGS: M169L
PubMed Link: 24807215
Variant Present in the following documents:
  • ncomms4830-s10.xls, sheet 1
View BVdb publication page