TG c.94_96delinsTGA ;(p.R32*)

Variant ID: 8-133880386-CGT-TGA

NM_003235.4(TG):c.94_96delinsTGA;(p.R32*)

This variant was identified in 5 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: TG: R32*
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: TG: R32*
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research
Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR
Publication Date: 2022-06

Variant appearance in text: TG: Arg32*
PubMed Link: 35460704
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



HK022 Nun Requires Arginine-Rich Motif Residues Distinct from λ N.

Journal Of Bacteriology
Tawk, Caroline S CS; Ghattas, Ingrid R IR; Smith, Colin A CA
Publication Date: 2015-11

Variant appearance in text: TG: R32X
PubMed Link: 26350130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

Plos Genetics
Thompson, Ella R ER; Doyle, Maria A MA; Ryland, Georgina L GL; Rowley, Simone M SM; Choong, David Y H DY; Tothill, Richard W RW; Thorne, Heather H; , ; Barnes, Daniel R DR; Li, Jason J; Ellul, Jason J; Philip, Gayle K GK; Antill, Yoland C YC; James, Paul A PA; Trainer, Alison H AH; Mitchell, Gillian G; Campbell, Ian G IG
Publication Date: 2012-09

Variant appearance in text: TG: R32*
PubMed Link: 23028338
Variant Present in the following documents:
  • pgen.1002894.s003.xlsx, sheet 1
View BVdb publication page