GC c.236C>A ;(p.A79D)

Variant ID: 4-72634043-G-T

NM_000583.3(GC):c.236C>A;(p.A79D)

This variant was identified in 19 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: GC: 236C>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: GC: Ala79Asp
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



Neurodegeneration Risk Factor, EIF2AK3 (PERK), Influences Tau Protein Aggregation.

The Journal Of Biological Chemistry
Park, Goonho G; Xu, Ke K; Chea, Leon L; Kim, Kyle K; Safarta, Lance L; Song, Keon-Hyoung KH; Wu, Jian J; Park, Soyoung S; Min, Hyejung H; Hiramatsu, Nobuhiko N; Han, Jaeseok J; Lin, Jonathan H JH
Publication Date: 2022-12-20

Variant appearance in text: GC: 236C>A
PubMed Link: 36563857
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
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: GC: 236C>A; A79E
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Four new species of Ditrigona Moore (Lepidoptera, Drepanidae) in China and an annotated catalogue.

Zookeys
Guo, Xiao-Jiang XJ; Cheng, Rui R; Jiang, Shan S; Xue, Da-Yong DY; Han, Hong-Xiang HX
Publication Date: 2022

Variant appearance in text: GC: A79D
PubMed Link: 35586019
Variant Present in the following documents:
  • zookeys-1091-057.pdf
View BVdb publication page



A SARS-CoV-2 Delta variant containing mutation in the probe binding region used for RT-qPCR test in Japan exhibited atypical PCR amplification and might induce false negative result.

Journal Of Infection And Chemotherapy : Official Journal Of The Japan Society Of Chemotherapy
Rajib, Samiul Alam SA; Ogi, Yasuhiro Y; Hossain, Md Belal MB; Ikeda, Terumasa T; Tanaka, Eiichi E; Kawaguchi, Tatsuya T; Satou, Yorifumi Y
Publication Date: 2022-05

Variant appearance in text: GC: A79D
PubMed Link: 35144878
Variant Present in the following documents:
  • mmc2.xls, sheet 1
View BVdb publication page



Functional characterization of 5' UTR cis-acting sequence elements that modulate translational efficiency in Plasmodium falciparum and humans.

Malaria Journal
Garcia, Valentina E VE; Dial, Rebekah R; DeRisi, Joseph L JL
Publication Date: 2022-01-06

Variant appearance in text: GC: A79D
PubMed Link: 34991611
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effect of vitamin D on cognitive decline: results from two ancillary studies of the VITAL randomized trial.

Scientific Reports
Kang, Jae H JH; Vyas, Chirag M CM; Okereke, Olivia I OI; Ogata, Soshiro S; Albert, Michelle M; Lee, I-Min IM; D'Agostino, Denise D; Buring, Julie E JE; Cook, Nancy R NR; Grodstein, Francine F; Manson, JoAnn E JE
Publication Date: 2021-12-01

Variant appearance in text: VDBP: A79D
PubMed Link: 34853363
Variant Present in the following documents:
  • Main text
View BVdb publication page



NSs, the Silencing Suppressor of Tomato Spotted Wilt Orthotospovirus, Interferes With JA-Regulated Host Terpenoids Expression to Attract Frankliniella occidentalis.

Frontiers In Microbiology
Du, Jiao J; Song, Xiao-Yu XY; Shi, Xiao-Bin XB; Tang, Xin X; Chen, Jian-Bin JB; Zhang, Zhan-Hong ZH; Chen, Gong G; Zhang, Zhuo Z; Zhou, Xu-Guo XG; Liu, Yong Y; Zhang, De-Yong DY
Publication Date: 2020

Variant appearance in text: GC: A79D
PubMed Link: 33362737
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comprehensive analysis of cotton VQ gene superfamily reveals their potential and extensive roles in regulating cotton abiotic stress.

Bmc Genomics
Chen, Pengyun P; Wei, Fei F; Cheng, Shuaishuai S; Ma, Liang L; Wang, Hantao H; Zhang, Meng M; Mao, Guangzhi G; Lu, Jianhua J; Hao, Pengbo P; Ahmad, Adeel A; Gu, Lijiao L; Ma, Qiang Q; Wu, Aimin A; Wei, Hengling H; Yu, Shuxun S
Publication Date: 2020-11-16

Variant appearance in text: GC: A79D
PubMed Link: 33198654
Variant Present in the following documents:
  • Main text
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: GC: 236C>A
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer
Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H
Publication Date: 2020-05

Variant appearance in text: GC: 236C>A; A79D
PubMed Link: 32457125
Variant Present in the following documents:
  • jitc-2019-000204supp003.xlsx, sheet 3
View BVdb publication page



Salinity stress-induced differentially expressed miRNAs and target genes in sea cucumbers Apostichopus japonicus.

Cell Stress & Chaperones
Tian, Yi Y; Shang, Yanpeng Y; Guo, Ran R; Chang, Yaqing Y; Jiang, Yanan Y
Publication Date: 2019-07

Variant appearance in text: GC: A79D
PubMed Link: 31134533
Variant Present in the following documents:
  • Main text
View BVdb publication page



Breast cancer quantitative proteome and proteogenomic landscape.

Nature Communications
Johansson, Henrik J HJ; Socciarelli, Fabio F; Vacanti, Nathaniel M NM; Haugen, Mads H MH; Zhu, Yafeng Y; Siavelis, Ioannis I; Fernandez-Woodbridge, Alejandro A; Aure, Miriam R MR; Sennblad, Bengt B; Vesterlund, Mattias M; Branca, Rui M RM; Orre, Lukas M LM; Huss, Mikael M; Fredlund, Erik E; Beraki, Elsa E; Garred, Øystein Ø; Boekel, Jorrit J; Sauer, Torill T; Zhao, Wei W; Nord, Silje S; Höglander, Elen K EK; Jans, Daniel C DC; Brismar, Hjalmar H; Haukaas, Tonje H TH; Bathen, Tone F TF; Schlichting, Ellen E; Naume, Bjørn B; , ; Luders, Torben T; Borgen, Elin E; Kristensen, Vessela N VN; Russnes, Hege G HG; Lingjærde, Ole Christian OC; Mills, Gordon B GB; Sahlberg, Kristine K KK; Børresen-Dale, Anne-Lise AL; Lehtiö, Janne J
Publication Date: 2019-04-08

Variant appearance in text: GC: 236C>A; A79D
PubMed Link: 30962452
Variant Present in the following documents:
  • 41467_2019_9018_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease.

Nature Neuroscience
Dong, Xianjun X; Liao, Zhixiang Z; Gritsch, David D; Hadzhiev, Yavor Y; Bai, Yunfei Y; Locascio, Joseph J JJ; Guennewig, Boris B; Liu, Ganqiang G; Blauwendraat, Cornelis C; Wang, Tao T; Adler, Charles H CH; Hedreen, John C JC; Faull, Richard L M RLM; Frosch, Matthew P MP; Nelson, Peter T PT; Rizzu, Patrizia P; Cooper, Antony A AA; Heutink, Peter P; Beach, Thomas G TG; Mattick, John S JS; Müller, Ferenc F; Scherzer, Clemens R CR
Publication Date: 2018-10

Variant appearance in text: GC: A79D
PubMed Link: 30224808
Variant Present in the following documents:
  • Main text
View BVdb publication page



A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5.

Blood Cancer Journal
White, Brian S BS; Lanc, Irena I; O'Neal, Julie J; Gupta, Harshath H; Fulton, Robert S RS; Schmidt, Heather H; Fronick, Catrina C; Belter, Edward A EA; Fiala, Mark M; King, Justin J; Ahmann, Greg J GJ; DeRome, Mary M; Mardis, Elaine R ER; Vij, Ravi R; DiPersio, John F JF; Levy, Joan J; Auclair, Daniel D; Tomasson, Michael H MH
Publication Date: 2018-03-21

Variant appearance in text: GC: A79D
PubMed Link: 29563506
Variant Present in the following documents:
  • 41408_2018_62_MOESM1_ESM.xls, sheet 8
View BVdb publication page



Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)
Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB
Publication Date: 2017-07-05

Variant appearance in text: GC: Ala79Asp
PubMed Link: 28592556
Variant Present in the following documents:
  • 2345FileS1.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: GC: 236C>A; A79D
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: GC: A79D
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page