GC c.233_234delinsAC ;(p.G78D)

Variant ID: 4-72634045-CC-GT

NM_000583.3(GC):c.233_234delinsAC;(p.G78D)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases
Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U
Publication Date: 2020-11-18

Variant appearance in text: GC: Gly78Asp
PubMed Link: 33208168
Variant Present in the following documents:
  • 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Emergence of multidrug-resistant Mycobacterium tuberculosis of the Beijing lineage in Portugal and Guinea-Bissau: a snapshot of moving clones by whole-genome sequencing.

Emerging Microbes & Infections
Perdigão, João J; Silva, Carla C; Maltez, Fernando F; Machado, Diana D; Miranda, Anabela A; Couto, Isabel I; Rabna, Paulo P; Florez de Sessions, Paola P; Phelan, Jody J; Pain, Arnab A; McNerney, Ruth R; Hibberd, Martin L ML; Mokrousov, Igor I; Clark, Taane G TG; Viveiros, Miguel M; Portugal, Isabel I
Publication Date: 2020-12

Variant appearance in text: GC: G78D
PubMed Link: 32538300
Variant Present in the following documents:
  • Main text
View BVdb publication page



Determining the unbinding events and conserved motions associated with the pyrazinamide release due to resistance mutations of Mycobacterium tuberculosis pyrazinamidase.

Computational And Structural Biotechnology Journal
Sheik Amamuddy, Olivier O; Musyoka, Thommas Mutemi TM; Boateng, Rita Afriyie RA; Zabo, Sophakama S; Tastan Bishop, Özlem Ö
Publication Date: 2020

Variant appearance in text: GC: G78D
PubMed Link: 32489525
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Characteristic gene alterations in primary gastrointestinal T- and NK-cell lymphomas.

Leukemia
Lee, Gunho G; Ryu, Hyang Joo HJ; Choi, Ji Woon JW; Kang, Hyundeok H; Yang, Woo Ick WI; Yang, In Seok IS; Seo, Mi-Kyoung MK; Kim, Sangwoo S; Yoon, Sun Och SO
Publication Date: 2019-07

Variant appearance in text: GC: Gly78Asp
PubMed Link: 30675012
Variant Present in the following documents:
  • 41375_2018_309_MOESM21_ESM.pdf
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: G78D
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
  • oncotarget-08-99237-s002.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: GC: G78D
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: GC: G78D
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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: GC: G78D
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Decreased mitochondrial DNA mutagenesis in human colorectal cancer.

Plos Genetics
Ericson, Nolan G NG; Kulawiec, Mariola M; Vermulst, Marc M; Sheahan, Kieran K; O'Sullivan, Jacintha J; Salk, Jesse J JJ; Bielas, Jason H JH
Publication Date: 2012

Variant appearance in text: GC: G78D
PubMed Link: 22685414
Variant Present in the following documents:
  • Main text
  • pgen.1002689.pdf
View BVdb publication page