KIT c.2486C>G ;(p.A829G)

Variant ID: 4-55602665-C-G

NM_000222.2(KIT):c.2486C>G;(p.A829G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: KIT: A829G
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults.

Genes, Chromosomes & Cancer
Bignell, Graham G; Smith, Raffaella R; Hunter, Chris C; Stephens, Philip P; Davies, Helen H; Greenman, Chris C; Teague, Jon J; Butler, Adam A; Edkins, Sarah S; Stevens, Claire C; O'Meara, Sarah S; Parker, Adrian A; Avis, Tim T; Barthorpe, Syd S; Brackenbury, Lisa L; Buck, Gemma G; Clements, Jody J; Cole, Jennifer J; Dicks, Ed E; Edwards, Ken K; Forbes, Simon S; Gorton, Matthew M; Gray, Kristian K; Halliday, Kelly K; Harrison, Rachel R; Hills, Katy K; Hinton, Jonathon J; Jones, David D; Kosmidou, Vivienne V; Laman, Ross R; Lugg, Richard R; Menzies, Andrew A; Perry, Janet J; Petty, Robert R; Raine, Keiran K; Shepherd, Rebecca R; Small, Alexandra A; Solomon, Helen H; Stephens, Yvonne Y; Tofts, Calli C; Varian, Jennifer J; Webb, Anthony A; West, Sofie S; Widaa, Sara S; Yates, Andy A; Gillis, Ad J M AJ; Stoop, Hans J HJ; van Gurp, Ruud J H L M RJ; Oosterhuis, J Wolter JW; Looijenga, Leendert H J LH; Futreal, P Andrew PA; Wooster, Richard R; Stratton, Michael R MR
Publication Date: 2006-01

Variant appearance in text: KIT: A829G
PubMed Link: 16175573
Variant Present in the following documents:
  • Main text
View BVdb publication page