KIT c.1670G>A ;(p.W557*)

Variant ID: 4-55593604-G-A

NM_000222.2(KIT):c.1670G>A;(p.W557*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: rs1057520032
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Exon 11 homozygous mutations and intron 10/exon 11 junction deletions in the KIT gene are associated with poor prognosis of patients with gastrointestinal stromal tumors.

Cancer Medicine
Shen, Yan-Ying YY; Ma, Xin-Li XL; Wang, Ming M; Zhuang, Chun C; Ni, Bo B; Tu, Lin L; Liu, Qiang Q; Zhao, Wen-Yi WY; Cao, Hui H
Publication Date: 2020-09

Variant appearance in text: KIT: W557X
PubMed Link: 32697050
Variant Present in the following documents:
  • Main text
  • CAM4-9-6485.pdf
View BVdb publication page



Analysis of C-Kit Exon 9, Exon 11 and BRAFV600E Mutations Using Sangers Sequencing in Gastrointestinal Stromal Tumours.

Cureus
Madhala, Divya D; Sundaram, Sandhya S; Chinambedudandapani, MohanaPriya M; Balasubramanian, Archana A
Publication Date: 2020-03-22

Variant appearance in text: KIT: 1670G>A
PubMed Link: 32328381
Variant Present in the following documents:
  • Main text
  • cureus-0012-00000007369.pdf
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: KIT: W557*
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



High-throughput profiling identifies clinically actionable mutations in salivary duct carcinoma.

Journal Of Translational Medicine
Ku, Bo Mi BM; Jung, Hyun Ae HA; Sun, Jong-Mu JM; Ko, Young Hyeh YH; Jeong, Han-Sin HS; Son, Young-Ik YI; Baek, Chung-Hwan CH; Park, Keunchil K; Ahn, Myung-Ju MJ
Publication Date: 2014-10-25

Variant appearance in text: KIT: W557X
PubMed Link: 25343854
Variant Present in the following documents:
  • Main text
  • 12967_2014_Article_299.pdf
View BVdb publication page