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KIT c.1685A>T ;(p.E562V)
Variant ID: 4-55593619-A-T
NM_000222.2(
KIT
):c.1685A>T;(p.E562V)
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:
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: Glu562Val
PubMed Link:
25780536
Variant Present in the following documents:
Main text
IJCP-05-027.pdf
View BVdb publication page
Predicting the functional impact of protein mutations: application to cancer genomics.
Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01
Variant appearance in text: KIT: E562V
PubMed Link:
21727090
Variant Present in the following documents:
supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page
Identification of c-kit gene mutations in primary adenoid cystic carcinoma of the salivary gland.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Vila, Lizette L; Liu, Hongyan H; Al-Quran, Samer Z SZ; Coco, Dominique P DP; Dong, Hui-Jia HJ; Liu, Chen C
Publication Date: 2009-10
Variant appearance in text: KIT: Glu562Val
PubMed Link:
19617878
Variant Present in the following documents:
Main text
View BVdb publication page