TG c.1159G>A ;(p.D387N)

Variant ID: 8-133898776-G-A

NM_003235.4(TG):c.1159G>A;(p.D387N)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: TG: 1159G>A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: TG: 1159G>A
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: TG: 1159G>A
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Molecular insights into the role of genetic determinants of congenital hypothyroidism.

Genomics & Informatics
Kollati, Yedukondalu Y; Akella, Radha Rama Devi RRD; Naushad, Shaik Mohammad SM; Patel, Rajesh K RK; Reddy, G Bhanuprakash GB; Dirisala, Vijaya R VR
Publication Date: 2021-09

Variant appearance in text: TG: 1159G>A
PubMed Link: 34638176
Variant Present in the following documents:
  • gi-21034.pdf
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: TG: 1159G>A; D387N
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nature Communications
Wang, Tianyun T; Hoekzema, Kendra K; Vecchio, Davide D; Wu, Huidan H; Sulovari, Arvis A; Coe, Bradley P BP; Gillentine, Madelyn A MA; Wilfert, Amy B AB; Perez-Jurado, Luis A LA; Kvarnung, Malin M; Sleyp, Yoeri Y; Earl, Rachel K RK; Rosenfeld, Jill A JA; Geisheker, Madeleine R MR; Han, Lin L; Du, Bing B; Barnett, Chris C; Thompson, Elizabeth E; Shaw, Marie M; Carroll, Renee R; Friend, Kathryn K; Catford, Rachael R; Palmer, Elizabeth E EE; Zou, Xiaobing X; Ou, Jianjun J; Li, Honghui H; Guo, Hui H; Gerdts, Jennifer J; Avola, Emanuela E; Calabrese, Giuseppe G; Elia, Maurizio M; Greco, Donatella D; Lindstrand, Anna A; Nordgren, Ann A; Anderlid, Britt-Marie BM; Vandeweyer, Geert G; Van Dijck, Anke A; Van der Aa, Nathalie N; McKenna, Brooke B; Hancarova, Miroslava M; Bendova, Sarka S; Havlovicova, Marketa M; Malerba, Giovanni G; Bernardina, Bernardo Dalla BD; Muglia, Pierandrea P; van Haeringen, Arie A; Hoffer, Mariette J V MJV; Franke, Barbara B; Cappuccio, Gerarda G; Delatycki, Martin M; Lockhart, Paul J PJ; Manning, Melanie A MA; Liu, Pengfei P; Scheffer, Ingrid E IE; Brunetti-Pierri, Nicola N; Rommelse, Nanda N; Amaral, David G DG; Santen, Gijs W E GWE; Trabetti, Elisabetta E; Sedláček, Zdeněk Z; Michaelson, Jacob J JJ; Pierce, Karen K; Courchesne, Eric E; Kooy, R Frank RF; , ; Nordenskjöld, Magnus M; Romano, Corrado C; Peeters, Hilde H; Bernier, Raphael A RA; Gecz, Jozef J; Xia, Kun K; Eichler, Evan E EE
Publication Date: 2020-10-01

Variant appearance in text: TG: 1159G>A; Asp387Asn
PubMed Link: 33004838
Variant Present in the following documents:
  • 41467_2020_18723_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Angiosarcoma heterogeneity and potential therapeutic vulnerability to immune checkpoint blockade: insights from genomic sequencing.

Genome Medicine
Boichard, Amélie A; Wagner, Michael J MJ; Kurzrock, Razelle R
Publication Date: 2020-07-09

Variant appearance in text: TG: 1159G>A
PubMed Link: 32646514
Variant Present in the following documents:
  • 13073_2020_753_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Precise timing of transcription by c-di-GMP coordinates cell cycle and morphogenesis in Caulobacter.

Nature Communications
Kaczmarczyk, Andreas A; Hempel, Antje M AM; von Arx, Christoph C; Böhm, Raphael R; Dubey, Badri N BN; Nesper, Jutta J; Schirmer, Tilman T; Hiller, Sebastian S; Jenal, Urs U
Publication Date: 2020-02-10

Variant appearance in text: TG: D387N
PubMed Link: 32041947
Variant Present in the following documents:
  • 41467_2020_Article_14585.pdf
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: TG: D387N
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: TG: 1159G>A
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: TG: 1159G>A
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: TG: 1159G>A; Asp387Asn
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: TG: D387N
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: TG: 1159G>A
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page