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KIT c.1705G>C ;(p.V569L)
Variant ID: 4-55593639-G-C
NM_000222.2(
KIT
):c.1705G>C;(p.V569L)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: KIT: V569L
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Screening of C-kit gene Mutation in Acute Myeloid Leukaemia in Northern India.
Iranian Journal Of Cancer Prevention
Hussain, S R SR; Raza, S T ST; Babu, S G SG; Singh, P P; Naqvi, H H; Mahdi, F F
Publication Date: 2012
Variant appearance in text: KIT: Val569Leu
PubMed Link:
25780536
Variant Present in the following documents:
Main text
IJCP-05-027.pdf
View BVdb publication page