KIT c.1649A>T ;(p.K550I)

Variant ID: 4-55593583-A-T

NM_000222.2(KIT):c.1649A>T;(p.K550I)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: KIT: K550I
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Identifying three-dimensional structures of autophosphorylation complexes in crystals of protein kinases.

Science Signaling
Xu, Qifang Q; Malecka, Kimberly L KL; Fink, Lauren L; Jordan, E Joseph EJ; Duffy, Erin E; Kolander, Samuel S; Peterson, Jeffrey R JR; Dunbrack, Roland L RL
Publication Date: 2015-12-01

Variant appearance in text: KIT: K550I
PubMed Link: 26628682
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: KIT: K550I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Deciphering the Key Features of Malignant Tumor Microenvironment for Anti-cancer Therapy.

Cancer Microenvironment : Official Journal Of The International Cancer Microenvironment Society
Shang, Bingxue B; Zhang, Gaochuan G; Pan, Yanyan Y; Zhou, Quansheng Q
Publication Date: 2012-12

Variant appearance in text: KIT: Lys550Ile
PubMed Link: 22592483
Variant Present in the following documents:
  • Main text
View BVdb publication page



The energy landscape analysis of cancer mutations in protein kinases.

Plos One
Dixit, Anshuman A; Verkhivker, Gennady M GM
Publication Date: 2011

Variant appearance in text: KIT: K550I
PubMed Link: 21998754
Variant Present in the following documents:
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: K550I
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



The location of KIT and PDGFRA gene mutations in gastrointestinal stromal tumours is site and phenotype associated.

Journal Of Clinical Pathology
Penzel, R R; Aulmann, S S; Moock, M M; Schwarzbach, M M; Rieker, R J RJ; Mechtersheimer, G G
Publication Date: 2005-06

Variant appearance in text: KIT: K550I
PubMed Link: 15917417
Variant Present in the following documents:
  • Main text
View BVdb publication page