KIT c.1854G>A ;(p.M618I)

Variant ID: 4-55594068-G-A

NM_000222.2(KIT):c.1854G>A;(p.M618I)

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: M618I; rs199787524
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One
Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S
Publication Date: 2022

Variant appearance in text: KIT: M618I
PubMed Link: 35358259
Variant Present in the following documents:
  • pone.0266112.s001.xlsx, sheet 1
View BVdb publication page



Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.

Breast Cancer Research : Bcr
Priedigkeit, Nolan N; Ding, Kai K; Horne, William W; Kolls, Jay K JK; Du, Tian T; Lucas, Peter C PC; Blohmer, Jens-Uwe JU; Denkert, Carsten C; Machleidt, Anna A; Ingold-Heppner, Barbara B; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2021-01-06

Variant appearance in text: KIT: M618I; rs199787524
PubMed Link: 33407744
Variant Present in the following documents:
  • 13058_2020_1379_MOESM2_ESM.xlsx, sheet 5
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: M618I
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
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: M618I
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Characteristic gene alterations in primary gastrointestinal T- and NK-cell lymphomas.

Leukemia
Lee, Gunho G; Ryu, Hyang Joo HJ; Choi, Ji Woon JW; Kang, Hyundeok H; Yang, Woo Ick WI; Yang, In Seok IS; Seo, Mi-Kyoung MK; Kim, Sangwoo S; Yoon, Sun Och SO
Publication Date: 2019-07

Variant appearance in text: KIT: Met618Ile
PubMed Link: 30675012
Variant Present in the following documents:
  • 41375_2018_309_MOESM21_ESM.pdf
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: M618I; rs199787524
PubMed Link: 28521285
Variant Present in the following documents:
  • oncotarget-08-45943-s002.xlsx, sheet 2
View BVdb publication page



Werner syndrome through the lens of tissue and tumour genomics.

Scientific Reports
Tokita, Mari M; Kennedy, Scott R SR; Risques, Rosa Ana RA; Chun, Stephen G SG; Pritchard, Colin C; Oshima, Junko J; Liu, Yan Y; Bryant-Greenwood, Peter K PK; Welcsh, Piri P; Monnat, Raymond J RJ
Publication Date: 2016-08-25

Variant appearance in text: KIT: M618I
PubMed Link: 27559010
Variant Present in the following documents:
  • Main text
  • srep32038.pdf
View BVdb publication page