KIT c.2428G>C ;(p.D810H)

Variant ID: 4-55599302-G-C

NM_000222.2(KIT):c.2428G>C;(p.D810H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Recurrent KRAS, KIT and SF3B1 mutations in melanoma of the female genital tract.

Bmc Cancer
Cai, Yuan-Jun YJ; Ke, Long-Feng LF; Zhang, Wen-Wen WW; Lu, Jian-Ping JP; Chen, Yan-Ping YP
Publication Date: 2021-06-08

Variant appearance in text: KIT: D810H
PubMed Link: 34102999
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_8427.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: D810H
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page