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KIT c.2347C>A ;(p.L783I)
Variant ID: 4-55598150-C-A
NM_000222.2(
KIT
):c.2347C>A;(p.L783I)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.
Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020
Variant appearance in text: KIT: 2347C>A; L783I
PubMed Link:
32373528
Variant Present in the following documents:
Table_6.xlsx, sheet 1
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: L783I
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Targeted next generation sequencing of mucosal melanomas identifies frequent NF1 and RAS mutations.
Oncotarget
Cosgarea, Ioana I; Ugurel, Selma S; Sucker, Antje A; Livingstone, Elisabeth E; Zimmer, Lisa L; Ziemer, Mirjana M; Utikal, Jochen J; Mohr, Peter P; Pfeiffer, Christiane C; Pföhler, Claudia C; Hillen, Uwe U; Horn, Susanne S; Schadendorf, Dirk D; Griewank, Klaus G KG; Roesch, Alexander A
Publication Date: 2017-06-20
Variant appearance in text: KIT: L783I
PubMed Link:
28380455
Variant Present in the following documents:
Main text
oncotarget-08-40683.pdf
View BVdb publication page