GC c.46_47delinsTT ;(p.A16F)

Variant ID: 4-72649689-GC-AA

NM_000583.3(GC):c.46_47delinsTT;(p.A16F)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Human whole genome sequencing in South Africa.

Scientific Reports
Glanzmann, Brigitte B; Jooste, Tracey T; Ghoor, Samira S; Gordon, Richard R; Mia, Rizwana R; Mao, Jun J; Li, Hao H; Charls, Patrick P; Douman, Craig C; Kotze, Maritha J MJ; Peeters, Armand V AV; Loots, Glaudina G; Esser, Monika M; Tiemessen, Caroline T CT; Wilkinson, Robert J RJ; Louw, Johan J; Gray, Glenda G; Warren, Robin M RM; Möller, Marlo M; Kinnear, Craig C
Publication Date: 2021-01-12

Variant appearance in text: GC: A16F
PubMed Link: 33436733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of Nutrient and Water Supply During Fruit Development on Metabolite Composition in Tomato Fruits (Solanum lycopersicum L.) Grown in Magnesium Excess Soils.

Frontiers In Plant Science
Kim, Yangmin X YX; Kwon, Min Cheol MC; Lee, Seulbi S; Jung, Eun Sung ES; Lee, Choong Hwan CH; Sung, Jwakyung J
Publication Date: 2020

Variant appearance in text: GC: A16F
PubMed Link: 33101331
Variant Present in the following documents:
  • Main text
View BVdb publication page



microRNA-30a arbitrates intestinal-type early gastric carcinogenesis by directly targeting ITGA2.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Min, Jimin J; Han, Tae-Su TS; Sohn, Yoojin Y; Shimizu, Takahiro T; Choi, Boram B; Bae, Seong-Woo SW; Hur, Keun K; Kong, Seong-Ho SH; Suh, Yun-Suhk YS; Lee, Hyuk-Joon HJ; Kim, Jang-Seong JS; Min, Jeong-Ki JK; Kim, Woo-Ho WH; Kim, V Narry VN; Choi, Eunyoung E; Goldenring, James R JR; Yang, Han-Kwang HK
Publication Date: 2020-07

Variant appearance in text: GC: A16F
PubMed Link: 32112274
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample.

Journal Of Molecular Neuroscience : Mn
Jiao, Jian J; Zhang, Manxue M; Yang, Pingyuan P; Huang, Yan Y; Hu, Xiao X; Cai, Jia J; Yang, Chan C; Situ, Mingjing M; Zhang, Hui H; Fu, Lei L; Guo, Kuifang K; Huang, Yi Y
Publication Date: 2020-02

Variant appearance in text: GC: A16F
PubMed Link: 31838722
Variant Present in the following documents:
  • 12031_2019_1456_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Functional consequences of somatic mutations in cancer using protein pocket-based prioritization approach.

Genome Medicine
Vuong, Huy H; Cheng, Feixiong F; Lin, Chen-Ching CC; Zhao, Zhongming Z
Publication Date: 2014

Variant appearance in text: GC: A16F
PubMed Link: 25360158
Variant Present in the following documents:
  • 13073_2014_81_MOESM1_ESM.xlsx, sheet 1
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: A16F
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page