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KIT c.1534A>G ;(p.N512D)
Variant ID: 4-55592210-A-G
NM_000222.2(
KIT
):c.1534A>G;(p.N512D)
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:
Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.
Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27
Variant appearance in text: KIT: N512D
PubMed Link:
33106165
Variant Present in the following documents:
13073_2020_787_MOESM1_ESM.xlsx, sheet 9
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: N512D
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: Asn512Asp
PubMed Link:
19617878
Variant Present in the following documents:
Main text
View BVdb publication page