USH2A c.7028G>A ;(p.R2343Q)

Variant ID: 1-216138751-C-T

NM_206933.2(USH2A):c.7028G>A;(p.R2343Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: USH2A: 7028G>A; Arg2343Gln
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: USH2A: 7028G>A; Arg2343Gln
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Bmc Ophthalmology
Young, Su Ling SL; Stanton, Chloe M CM; Livesey, Benjamin J BJ; Marsh, Joseph A JA; Cackett, Peter D PD
Publication Date: 2022-03-26

Variant appearance in text: rs150318738
PubMed Link: 35346118
Variant Present in the following documents:
  • 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: USH2A: 7028G>A; R2343Q
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Genome-wide genetic and epigenetic analyses of pancreatic acinar cell carcinomas reveal aberrations in genome stability.

Nature Communications
Jäkel, Cornelia C; Bergmann, Frank F; Toth, Reka R; Assenov, Yassen Y; van der Duin, Daniel D; Strobel, Oliver O; Hank, Thomas T; Klöppel, Günter G; Dorrell, Craig C; Grompe, Markus M; Moss, Joshua J; Dor, Yuval Y; Schirmacher, Peter P; Plass, Christoph C; Popanda, Odilia O; Schmezer, Peter P
Publication Date: 2017-11-06

Variant appearance in text: rs150318738
PubMed Link: 29109526
Variant Present in the following documents:
  • 41467_2017_1118_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis.

Plos Medicine
Lefebvre, Celine C; Bachelot, Thomas T; Filleron, Thomas T; Pedrero, Marion M; Campone, Mario M; Soria, Jean-Charles JC; Massard, Christophe C; Lévy, Christelle C; Arnedos, Monica M; Lacroix-Triki, Magali M; Garrabey, Julie J; Boursin, Yannick Y; Deloger, Marc M; Fu, Yu Y; Commo, Frédéric F; Scott, Véronique V; Lacroix, Ludovic L; Dieci, Maria Vittoria MV; Kamal, Maud M; Diéras, Véronique V; Gonçalves, Anthony A; Ferrerro, Jean-Marc JM; Romieu, Gilles G; Vanlemmens, Laurence L; Mouret Reynier, Marie-Ange MA; Théry, Jean-Christophe JC; Le Du, Fanny F; Guiu, Séverine S; Dalenc, Florence F; Clapisson, Gilles G; Bonnefoi, Hervé H; Jimenez, Marta M; Le Tourneau, Christophe C; André, Fabrice F
Publication Date: 2016-12

Variant appearance in text: USH2A: Arg2343Gln; rs150318738
PubMed Link: 28027327
Variant Present in the following documents:
  • pmed.1002201.s012.xlsx, sheet 1
View BVdb publication page