GC c.946C>A ;(p.P316T)

Variant ID: 4-72622517-G-T

NM_000583.3(GC):c.946C>A;(p.P316T)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: GC: 946C>A
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports
Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T
Publication Date: 2021-11-08

Variant appearance in text: GC: 946C>A
PubMed Link: 34750398
Variant Present in the following documents:
  • 41598_2021_987_MOESM1_ESM.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: GC: 946C>A
PubMed Link: 33004838
Variant Present in the following documents:
  • 41467_2020_18723_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



A nutrient-limited screen unmasks rifabutin hyperactivity for extensively drug-resistant Acinetobacter baumannii.

Nature Microbiology
Luna, Brian B; Trebosc, Vincent V; Lee, Bosul B; Bakowski, Malina M; Ulhaq, Amber A; Yan, Jun J; Lu, Peggy P; Cheng, Jiaqi J; Nielsen, Travis T; Lim, Juhyeon J; Ketphan, Warisa W; Eoh, Hyungjin H; McNamara, Case C; Skandalis, Nicholas N; She, Rosemary R; Kemmer, Christian C; Lociuro, Sergio S; Dale, Glenn E GE; Spellberg, Brad B
Publication Date: 2020-09

Variant appearance in text: GC: 946C>A
PubMed Link: 32514072
Variant Present in the following documents:
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 9
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: GC: 946C>A
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
View BVdb publication page



Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing.

Plos One
Hernández-Imaz, Elisabete E; Martín, Yolanda Y; de Conti, Laura L; Melean, German G; Valero, Ana A; Baralle, Marco M; Hernández-Chico, Concepción C
Publication Date: 2015

Variant appearance in text: GC: 946C>A
PubMed Link: 26509978
Variant Present in the following documents:
  • Main text
View BVdb publication page