KIT c.1973G>A ;(p.G658E)

Variant ID: 4-55594270-G-A

NM_000222.2(KIT):c.1973G>A;(p.G658E)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive Molecular Characterization of Soft Tissue Sarcoma for Prediction of Pazopanib-Based Treatment Response.

Cancer Research And Treatment
Hong, Jung Yong JY; Cho, Hee Jin HJ; Yun, Kum-Hee KH; Lee, Young Han YH; Kim, Seung Hyun SH; Baek, Wooyeol W; Kim, Sang Kyum SK; Lee, Yurimi Y; Choi, Yoon-La YL; Kwon, Minsuk M; Kim, Hyo Song HS; Lee, Jeeyun J
Publication Date: 2022-09-27

Variant appearance in text: KIT: G658E
PubMed Link: 36164943
Variant Present in the following documents:
  • crt-2022-251-Supplementary-Table-2.xlsx, sheet 1
View BVdb publication page



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: G658E
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: G658E
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.

Immunology
Haenisch, Britta B; Nöthen, Markus M MM; Molderings, Gerhard J GJ
Publication Date: 2012-11

Variant appearance in text: KIT: G658E
PubMed Link: 22957768
Variant Present in the following documents:
  • Main text
View BVdb publication page