KIT c.2562C>T ;(p.S854=)

Variant ID: 4-55602741-C-T

NM_000222.2(KIT):c.2562C>T;(p.S854=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis.

Virchows Archiv : An International Journal Of Pathology
Tóth, Béla B; Kiss, Norbert N; Hársing, Judit J; Kárpáti, Sarolta S; Csomor, Judit J; Bödör, Csaba C; Tímár, József J; Rásó, Erzsébet E
Publication Date: 2020-11

Variant appearance in text: KIT: S854S
PubMed Link: 32372223
Variant Present in the following documents:
  • Main text
  • 428_2020_Article_2820.pdf
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: KIT: 2562C>T; S854S
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page