KIT c.2449A>C ;(p.I817L)

Variant ID: 4-55599323-A-C

NM_000222.2(KIT):c.2449A>C;(p.I817L)

This variant was identified in 5 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: I817L
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: I817L
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Analysis of KIT gene mutations in patients with melanoma of the head and neck mucosa: a retrospective clinical report.

Oncotarget
Toscano de Mendonça, Ullyanov Bezerra UB; Cernea, Claudio Roberto CR; Matos, Leandro Luongo LL; Monteiro de Araujo Lima, Roberto Rego RR
Publication Date: 2018-05-01

Variant appearance in text: KIT: I817L
PubMed Link: 29796159
Variant Present in the following documents:
  • Main text
  • oncotarget-09-22886.pdf
View BVdb publication page



A Novel KIT INDEL Mutation in Acute Myeloid Leukemia With t(8;21)(q22;q22); RUNX1-RUNX1T1.

Annals Of Laboratory Medicine
Lee, Jun Hyung JH; Park, Chungoo C; Kim, Soo Hyun SH; Shin, Myung Geun MG
Publication Date: 2016-07

Variant appearance in text: KIT: I817L
PubMed Link: 27139612
Variant Present in the following documents:
  • Main text
  • alm-36-371.pdf
View BVdb publication page



Phase II Trial of Nilotinib in Patients With Metastatic Malignant Melanoma Harboring KIT Gene Aberration: A Multicenter Trial of Korean Cancer Study Group (UN10-06).

The Oncologist
Lee, Su Jin SJ; Kim, Tae Min TM; Kim, Yu Jung YJ; Jang, Kee-Taek KT; Lee, Hyo Jin HJ; Lee, Soon Nam SN; Ahn, Mi Sun MS; Hwang, In Gyu IG; Lee, Suee S; Lee, Moon-Hee MH; Lee, Jeeyun J
Publication Date: 2015-11

Variant appearance in text: KIT: I817L
PubMed Link: 26424760
Variant Present in the following documents:
  • Main text
View BVdb publication page