KIT c.1977C>A ;(p.A659=)

Variant ID: 4-55594274-C-A

NM_000222.2(KIT):c.1977C>A;(p.A659=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Validation of the Oncomineā„¢ focus panel for next-generation sequencing of clinical tumour samples.

Virchows Archiv : An International Journal Of Pathology
Williams, Hannah L HL; Walsh, Kathy K; Diamond, Austin A; Oniscu, Anca A; Deans, Zandra C ZC
Publication Date: 2018-10

Variant appearance in text: KIT: 1977C>A
PubMed Link: 30105577
Variant Present in the following documents:
  • 428_2018_Article_2411.pdf
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: KIT: A659A
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
View BVdb publication page



Mutation profiling identifies numerous rare drug targets and distinct mutation patterns in different clinical subtypes of breast cancers.

Breast Cancer Research And Treatment
Santarpia, Libero L; Qi, Yuan Y; Stemke-Hale, Katherine K; Wang, Bailiang B; Young, Elliana J EJ; Booser, Daniel J DJ; Holmes, Frankie A FA; O'Shaughnessy, Joyce J; Hellerstedt, Beth B; Pippen, John J; Vidaurre, Tatiana T; Gomez, Henry H; Valero, Vicente V; Hortobagyi, Gabriel N GN; Symmans, W Fraser WF; Bottai, Giulia G; Di Leo, Angelo A; Gonzalez-Angulo, Ana M AM; Pusztai, Lajos L
Publication Date: 2012-07

Variant appearance in text: KIT: 1977C>A
PubMed Link: 22538770
Variant Present in the following documents:
  • Main text
View BVdb publication page