GC c.376_378delinsTGT ;(p.L126C)

Variant ID: 4-72631244-CAG-ACA

NM_000583.3(GC):c.376_378delinsTGT;(p.L126C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mutation landscape of multiple myeloma measurable residual disease: identification of targets for precision medicine.

Blood Advances
Zátopková, Martina M; Ševčíková, Tereza T; Fanfani, Viola V; Chyra, Zuzana Z; Rihova, Lucie L; Bezdekova, Renata R; Žihala, David D; Growková, Kateřina K; Filipova, Jana J; Černá, Lucie L; Broskevičová, Lucie L; Kryukov, Fedor F; Minařík, Jiří J; Smejkalová, Jana J; Maisnar, Vladimir V; Harvanová, Lubica L; Pour, Ludek L; Jungova, Alexandra A; Popková, Tereza T; Bago, Juli Rodriguez JR; Anilkumar Sithara, Anjana A; Hrdinka, Matous M; Jelinek, Tomas T; Šimíček, Michal M; Stracquadanio, Giovanni G; Hajek, Roman R
Publication Date: 2021-09-09

Variant appearance in text: GC: Leu126Cys
PubMed Link: 34500459
Variant Present in the following documents:
  • advancesADV2020003876-suppl2.xlsx, sheet 2
View BVdb publication page



Mutation landscape of multiple myeloma measurable residual disease: identification of targets for precision medicine.

Blood Advances
Zátopková, Martina M; Ševčíková, Tereza T; Fanfani, Viola V; Chyra, Zuzana Z; Říhová, Lucie L; Bezděková, Renata R; Žihala, David D; Growková, Kateřina K; Filipová, Jana J; Černá, Lucie L; Broskevičova, Lucie L; Kryukov, Fedor F; Minařík, Jiří J; Smejkalová, Jana J; Maisnar, Vladimír V; Harvanová, Ĺubica Ĺ; Pour, Luděk L; Jungova, Alexandra A; Popková, Tereza T; Bago, Juli Rodriguez JR; Anilkumar Sithara, Anjana A; Hrdinka, Matouš M; Jelínek, Tomáš T; Šimíček, Michal M; Stracquadanio, Giovanni G; Hájek, Roman R
Publication Date: 2022-01-25

Variant appearance in text: GC: Leu126Cys
PubMed Link: 34500459
Variant Present in the following documents:
  • advancesADV2020003876-suppl2.xlsx, sheet 2
View BVdb publication page



Topological analyses of the L-lysine exporter LysO reveal a critical role for a conserved pair of intramembrane solvent-exposed acidic residues.

The Journal Of Biological Chemistry
Dubey, Swati S; Majumder, Puja P; Penmatsa, Aravind A; Sardesai, Abhijit A AA
Publication Date: 2021-10

Variant appearance in text: GC: L126C
PubMed Link: 34487760
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Multiplexed precision genome editing with trackable genomic barcodes in yeast.

Nature Biotechnology
Roy, Kevin R KR; Smith, Justin D JD; Vonesch, Sibylle C SC; Lin, Gen G; Tu, Chelsea Szu CS; Lederer, Alex R AR; Chu, Angela A; Suresh, Sundari S; Nguyen, Michelle M; Horecka, Joe J; Tripathi, Ashutosh A; Burnett, Wallace T WT; Morgan, Maddison A MA; Schulz, Julia J; Orsley, Kevin M KM; Wei, Wu W; Aiyar, Raeka S RS; Davis, Ronald W RW; Bankaitis, Vytas A VA; Haber, James E JE; Salit, Marc L ML; St Onge, Robert P RP; Steinmetz, Lars M LM
Publication Date: 2018-07

Variant appearance in text: GC: L126C
PubMed Link: 29734294
Variant Present in the following documents:
  • nihms950685.pdf
View BVdb publication page