KIT c.1960G>A ;(p.V654M)

Variant ID: 4-55594257-G-A

NM_000222.2(KIT):c.1960G>A;(p.V654M)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: KIT: V654M
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s002.pdf
View BVdb publication page



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: V654M
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: V654M
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.

Plos Genetics
Haase, Bianca B; Brooks, Samantha A SA; Schlumbaum, Angela A; Azor, Pedro J PJ; Bailey, Ernest E; Alaeddine, Ferial F; Mevissen, Meike M; Burger, Dominik D; Poncet, Pierre-André PA; Rieder, Stefan S; Leeb, Tosso T
Publication Date: 2007-11

Variant appearance in text: KIT: 1960G>A
PubMed Link: 17997609
Variant Present in the following documents:
  • Main text
View BVdb publication page