KIT c.2263G>A ;(p.A755T)

Variant ID: 4-55598066-G-A

NM_000222.2(KIT):c.2263G>A;(p.A755T)

This variant was identified in 16 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: A755T; rs201165084
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: KIT: A755T
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Dualistic classification of high grade serous ovarian carcinoma has its root in spatial heterogeneity.

Journal Of Advanced Research
Sun, Tingting T; Zhang, Zuwei Z; Tian, Liming L; Zheng, Yu Y; Wu, Linxiang L; Guo, Yunyun Y; Li, Xiaohui X; Li, Yuanyuan Y; Shen, Hongwei H; Lai, Yingrong Y; Liu, Junfeng J; Cui, Huanhuan H; He, Shasha S; Ren, Yufeng Y; Yang, Guofen G
Publication Date: 2022-08-28

Variant appearance in text: KIT: A755T
PubMed Link: 36038111
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: KIT: 2263G>A; A755T
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



IGH Translocations in Chinese Patients With Chronic Lymphocytic Leukemia: Clinicopathologic Characteristics and Genetic Profile.

Frontiers In Oncology
Li, Qinlu Q; Xing, Shugang S; Zhang, Heng H; Mao, Xiao X; Xiao, Min M; Wang, Ying Y
Publication Date: 2022

Variant appearance in text: KIT: 2263G>A; Ala755Thr; rs201165084
PubMed Link: 35720006
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.

Bmc Cancer
Wen, Hao H; Feng, Zheng Z; Ma, Yutong Y; Liu, Rui R; Ou, Qiuxiang Q; Guo, Qinhao Q; Shen, Yi Y; Wu, Xue X; Shao, Yang Y; Bao, Hua H; Wu, Xiaohua X
Publication Date: 2022-05-16

Variant appearance in text: KIT: 2263G>A; A755T
PubMed Link: 35578198
Variant Present in the following documents:
  • 12885_2022_9602_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome.

World Journal Of Gastroenterology
Gu, Guo-Li GL; Zhang, Zhi Z; Zhang, Yu-Hui YH; Yu, Peng-Fei PF; Dong, Zhi-Wei ZW; Yang, Hai-Rui HR; Yuan, Ying Y
Publication Date: 2021-10-21

Variant appearance in text: KIT: 2263G>A; A755T
PubMed Link: 34754157
Variant Present in the following documents:
  • Main text
  • WJG-27-6631.pdf
View BVdb publication page



NUDT15 variants confer high incidence of second malignancies in children with acute lymphoblastic leukemia.

Blood Advances
Yoshida, Masanori M; Nakabayashi, Kazuhiko K; Yang, Wentao W; Sato-Otsubo, Aiko A; Tsujimoto, Shin-Ichi SI; Ogata-Kawata, Hiroko H; Kawai, Tomoko T; Ishiwata, Keisuke K; Sakamoto, Mika M; Okamura, Kohji K; Yoshida, Kaoru K; Shirai, Ryota R; Osumi, Tomoo T; Moriyama, Takaya T; Nishii, Rina R; Takahashi, Hiroyuki H; Kiyotani, Chikako C; Shioda, Yoko Y; Terashima, Keita K; Ishimaru, Sae S; Yuza, Yuki Y; Takagi, Masatoshi M; Arakawa, Yuki Y; Kinoshita, Akitoshi A; Hino, Moeko M; Imamura, Toshihiko T; Hasegawa, Daisuke D; Nakazawa, Yozo Y; Okuya, Mayuko M; Kakuda, Harumi H; Takasugi, Nao N; Inoue, Akiko A; Ohki, Kentaro K; Yoshioka, Takako T; Ito, Shuichi S; Tomizawa, Daisuke D; Koh, Katsuyoshi K; Matsumoto, Kimikazu K; Sanada, Masashi M; Kiyokawa, Nobutaka N; Ohara, Akira A; Ogawa, Seishi S; Manabe, Atsushi A; Niwa, Akira A; Hata, Kenichiro K; Yang, Jun J JJ; Kato, Motohiro M
Publication Date: 2021-12-14

Variant appearance in text: KIT: A755T
PubMed Link: 34662904
Variant Present in the following documents:
  • advancesADV2021005507-suppl1.pdf
View BVdb publication page



A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: KIT: 2263G>A; A755T
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
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: A755T
PubMed Link: 33172502
Variant Present in the following documents:
  • 40478_2020_1066_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: KIT: A755T
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Clinicopathological characteristics and genetic analysis of pulmonary carcinoid tumors: A single-center retrospective cohort study and literature review.

Oncology Letters
Li, Xiongfei X; Hou, Yuelong Y; Shi, Tao T; He, Yue Y; Ren, Dian D; Song, Zuoqing Z; Wei, Sen S; Chen, Gang G; Chen, Jun J; Xu, Song S
Publication Date: 2020-03

Variant appearance in text: KIT: A755T
PubMed Link: 32194744
Variant Present in the following documents:
  • Main text
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: A755T
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



ARID1B alterations identify aggressive tumors in neuroblastoma.

Oncotarget
Lee, Soo Hyun SH; Kim, Jung-Sun JS; Zheng, Siyuan S; Huse, Jason T JT; Bae, Joon Seol JS; Lee, Ji Won JW; Yoo, Keon Hee KH; Koo, Hong Hoe HH; Kyung, Sungkyu S; Park, Woong-Yang WY; Sung, Ki W KW
Publication Date: 2017-07-11

Variant appearance in text: KIT: A755T; rs201165084
PubMed Link: 28521285
Variant Present in the following documents:
  • oncotarget-08-45943-s002.xlsx, sheet 2
View BVdb publication page



Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing.

Plos One
Lu, You-Wang YW; Zhang, Hui-Feng HF; Liang, Rui R; Xie, Zhen-Rong ZR; Luo, Hua-You HY; Zeng, Yu-Jian YJ; Xu, Yu Y; Wang, La-Mei LM; Kong, Xiang-Yang XY; Wang, Kun-Hua KH
Publication Date: 2016

Variant appearance in text: KIT: A755T
PubMed Link: 27023146
Variant Present in the following documents:
  • Main text
  • pone.0152673.pdf
View BVdb publication page



Intra-tumor genetic heterogeneity and alternative driver genetic alterations in breast cancers with heterogeneous HER2 gene amplification.

Genome Biology
Ng, Charlotte K Y CK; Martelotto, Luciano G LG; Gauthier, Arnaud A; Wen, Huei-Chi HC; Piscuoglio, Salvatore S; Lim, Raymond S RS; Cowell, Catherine F CF; Wilkerson, Paul M PM; Wai, Patty P; Rodrigues, Daniel N DN; Arnould, Laurent L; Geyer, Felipe C FC; Bromberg, Silvio E SE; Lacroix-Triki, Magali M; Penault-Llorca, Frederique F; Giard, Sylvia S; Sastre-Garau, Xavier X; Natrajan, Rachael R; Norton, Larry L; Cottu, Paul H PH; Weigelt, Britta B; Vincent-Salomon, Anne A; Reis-Filho, Jorge S JS
Publication Date: 2015-05-22

Variant appearance in text: KIT: A755T
PubMed Link: 25994018
Variant Present in the following documents:
  • Main text
  • 13059_2015_Article_657.pdf
  • 13059_2015_657_MOESM9_ESM.pdf
View BVdb publication page