KIT c.695C>T ;(p.T232M)

Variant ID: 4-55565871-C-T

NM_000222.2(KIT):c.695C>T;(p.T232M)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: KIT: T232M; rs767174569
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: KIT: T232M
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Clinical and mutational profiles of adult medulloblastoma groups.

Acta Neuropathologica Communications
Wong, Gabriel Chun-Hei GC; Li, Kay Ka-Wai KK; Wang, Wei-Wei WW; Liu, Anthony Pak-Yin AP; Huang, Queenie Junqi QJ; Chan, Aden Ka-Yin AK; Poon, Manix Fung-Man MF; Chung, Nellie Yuk-Fei NY; Wong, Queenie Hoi-Wing QH; Chen, Hong H; Chan, Danny Tat Ming DTM; Liu, Xian-Zhi XZ; Mao, Ying Y; Zhang, Zhen-Yu ZY; Shi, Zhi-Feng ZF; Ng, Ho-Keung HK
Publication Date: 2020-11-10

Variant appearance in text: KIT: T232M
PubMed Link: 33172502
Variant Present in the following documents:
  • 40478_2020_1066_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International
Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M
Publication Date: 2020

Variant appearance in text: KIT: 695C>T; T232M
PubMed Link: 32489320
Variant Present in the following documents:
  • 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: KIT: 695C>T
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: KIT: 695C>T; T232M
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: KIT: T232M
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Genomic and molecular characterization of esophageal squamous cell carcinoma.

Nature Genetics
Lin, De-Chen DC; Hao, Jia-Jie JJ; Nagata, Yasunobu Y; Xu, Liang L; Shang, Li L; Meng, Xuan X; Sato, Yusuke Y; Okuno, Yusuke Y; Varela, Ana Maria AM; Ding, Ling-Wen LW; Garg, Manoj M; Liu, Li-Zhen LZ; Yang, Henry H; Yin, Dong D; Shi, Zhi-Zhou ZZ; Jiang, Yan-Yi YY; Gu, Wen-Yue WY; Gong, Ting T; Zhang, Yu Y; Xu, Xin X; Kalid, Ori O; Shacham, Sharon S; Ogawa, Seishi S; Wang, Ming-Rong MR; Koeffler, H Phillip HP
Publication Date: 2014-05

Variant appearance in text: KIT: T232M
PubMed Link: 24686850
Variant Present in the following documents:
  • NIHMS573166-supplement-9.xlsx, sheet 15
View BVdb publication page