KIT c.1801G>A ;(p.G601R)

Variant ID: 4-55594015-G-A

NM_000222.2(KIT):c.1801G>A;(p.G601R)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.

Ebiomedicine
Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J
Publication Date: 2022-04

Variant appearance in text: KIT: 1801G>A; Gly601Arg
PubMed Link: 35306340
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics
Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2020-11-30

Variant appearance in text: KIT: Gly601Arg
PubMed Link: 33256706
Variant Present in the following documents:
  • 12920_2020_824_MOESM5_ESM.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: G601R
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas.

Nature Communications
Geyer, Felipe C FC; Li, Anqi A; Papanastasiou, Anastasios D AD; Smith, Alison A; Selenica, Pier P; Burke, Kathleen A KA; Edelweiss, Marcia M; Wen, Huei-Chi HC; Piscuoglio, Salvatore S; Schultheis, Anne M AM; Martelotto, Luciano G LG; Pareja, Fresia F; Kumar, Rahul R; Brandes, Alissa A; Fan, Dan D; Basili, Thais T; Da Cruz Paula, Arnaud A; Lozada, John R JR; Blecua, Pedro P; Muenst, Simone S; Jungbluth, Achim A AA; Foschini, Maria P MP; Wen, Hannah Y HY; Brogi, Edi E; Palazzo, Juan J; Rubin, Brian P BP; Ng, Charlotte K Y CKY; Norton, Larry L; Varga, Zsuzsanna Z; Ellis, Ian O IO; Rakha, Emad A EA; Chandarlapaty, Sarat S; Weigelt, Britta B; Reis-Filho, Jorge S JS
Publication Date: 2018-05-08

Variant appearance in text: KIT: G601R
PubMed Link: 29739933
Variant Present in the following documents:
  • 41467_2018_4128_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: KIT: G601R
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
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: G601R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: KIT: G601R
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
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: G601R
PubMed Link: 21998754
Variant Present in the following documents:
View BVdb publication page