SI c.490G>A ;(p.D164N)

Variant ID: 3-164785273-C-T

NM_001041.3(SI):c.490G>A;(p.D164N)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: SI: 490G>A; D164N
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Broad phylogenetic analysis of cation/proton antiporters reveals transport determinants.

Nature Communications
Masrati, Gal G; Dwivedi, Manish M; Rimon, Abraham A; Gluck-Margolin, Yael Y; Kessel, Amit A; Ashkenazy, Haim H; Mayrose, Itay I; Padan, Etana E; Ben-Tal, Nir N
Publication Date: 2018-10-11

Variant appearance in text: SI: D164N
PubMed Link: 30310075
Variant Present in the following documents:
  • 41467_2018_6770_MOESM2_ESM.pdf
View BVdb publication page



Ligand-induced conformational dynamics of the Escherichia coli Na+/H+ antiporter NhaA revealed by hydrogen/deuterium exchange mass spectrometry.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Eisinger, Martin Lorenz ML; Dörrbaum, Aline Ricarda AR; Michel, Hartmut H; Padan, Etana E; Langer, Julian David JD
Publication Date: 2017-10-31

Variant appearance in text: SI: D164N
PubMed Link: 29078272
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early somatic mosaicism is a rare cause of long-QT syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Priest, James Rush JR; Gawad, Charles C; Kahlig, Kristopher M KM; Yu, Joseph K JK; O'Hara, Thomas T; Boyle, Patrick M PM; Rajamani, Sridharan S; Clark, Michael J MJ; Garcia, Sarah T K ST; Ceresnak, Scott S; Harris, Jason J; Boyle, Sean S; Dewey, Frederick E FE; Malloy-Walton, Lindsey L; Dunn, Kyla K; Grove, Megan M; Perez, Marco V MV; Neff, Norma F NF; Chen, Richard R; Maeda, Katsuhide K; Dubin, Anne A; Belardinelli, Luiz L; West, John J; Antolik, Christian C; Macaya, Daniela D; Quertermous, Thomas T; Trayanova, Natalia A NA; Quake, Stephen R SR; Ashley, Euan A EA
Publication Date: 2016-10-11

Variant appearance in text: SI: D164N
PubMed Link: 27681629
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics
Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ
Publication Date: 2013-05

Variant appearance in text: SI: D164N
PubMed Link: 23525077
Variant Present in the following documents:
  • NIHMS474888-supplement-6.xlsx, sheet 1
View BVdb publication page