KIT c.1912A>G ;(p.M638V)

Variant ID: 4-55594209-A-G

NM_000222.2(KIT):c.1912A>G;(p.M638V)

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: 1912A>G; Lys638Glu
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 6
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: M638V
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: M638V
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



A meta-analysis of somatic mutations from next generation sequencing of 241 melanomas: a road map for the study of genes with potential clinical relevance.

Molecular Cancer Therapeutics
Xia, Junfeng J; Jia, Peilin P; Hutchinson, Katherine E KE; Dahlman, Kimberly B KB; Johnson, Douglas D; Sosman, Jeffrey J; Pao, William W; Zhao, Zhongming Z
Publication Date: 2014-07

Variant appearance in text: KIT: 1912A>G
PubMed Link: 24755198
Variant Present in the following documents:
  • Main text
View BVdb publication page