TP53 c.783_784insC ;(p.G262Rfs*2)

Variant ID: 17-7577154-C-CG

NM_000546.5(TP53):c.783_784insC;(p.G262Rfs*2)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comparison of acute myeloid leukemia and myelodysplastic syndromes with TP53 aberrations.

Annals Of Hematology
Dutta, Sayantanee S; Moritz, Jennifer J; Pregartner, Gudrun G; Thallinger, Gerhard G GG; Brandstätter, Ilona I; Lind, Karin K; Rezania, Simin S; Lyssy, Freya F; Reinisch, Andreas A; Zebisch, Armin A; Berghold, Andrea A; Wölfler, Albert A; Sill, Heinz H
Publication Date: 2022-04

Variant appearance in text: TP53: G262fs
PubMed Link: 35083527
Variant Present in the following documents:
  • 277_2022_4766_MOESM1_ESM.pdf
View BVdb publication page



Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.

Nature Communications
Kennedy, Alyssa L AL; Myers, Kasiani C KC; Bowman, James J; Gibson, Christopher J CJ; Camarda, Nicholas D ND; Furutani, Elissa E; Muscato, Gwen M GM; Klein, Robert H RH; Ballotti, Kaitlyn K; Liu, Shanshan S; Harris, Chad E CE; Galvin, Ashley A; Malsch, Maggie M; Dale, David D; Gansner, John M JM; Nakano, Taizo A TA; Bertuch, Alison A; Vlachos, Adrianna A; Lipton, Jeffrey M JM; Castillo, Paul P; Connelly, James J; Churpek, Jane J; Edwards, John R JR; Hijiya, Nobuko N; Ho, Richard H RH; Hofmann, Inga I; Huang, James N JN; Keel, Siobán S; Lamble, Adam A; Lau, Bonnie W BW; Norkin, Maxim M; Stieglitz, Elliot E; Stock, Wendy W; Walkovich, Kelly K; Boettcher, Steffen S; Brendel, Christian C; Fleming, Mark D MD; Davies, Stella M SM; Weller, Edie A EA; Bahl, Christopher C; Carter, Scott L SL; Shimamura, Akiko A; Lindsley, R Coleman RC
Publication Date: 2021-02-26

Variant appearance in text: TP53: G262fs
PubMed Link: 33637765
Variant Present in the following documents:
  • 41467_2021_Article_21588.pdf
  • 41467_2021_21588_MOESM1_ESM.pdf
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: N/A
PubMed Link: 25326804
Variant Present in the following documents:
View BVdb publication page