KIT c.83C>G ;(p.S28C)

Variant ID: 4-55561693-C-G

NM_000222.2(KIT):c.83C>G;(p.S28C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Comprehensive benchmark and architectural analysis of deep learning models for nanopore sequencing basecalling.

Genome Biology
Pagès-Gallego, Marc M; de Ridder, Jeroen J
Publication Date: 2023-04-11

Variant appearance in text: KIT: S28c
PubMed Link: 37041647
Variant Present in the following documents:
  • Main text
  • 13059_2023_Article_2903.pdf
View BVdb publication page



Human population dynamics and Yersinia pestis in ancient northeast Asia.

Science Advances
Kılınç, Gülşah Merve GM; Kashuba, Natalija N; Koptekin, Dilek D; Bergfeldt, Nora N; Dönertaş, Handan Melike HM; Rodríguez-Varela, Ricardo R; Shergin, Dmitrij D; Ivanov, Grigorij G; Kichigin, Dmitrii D; Pestereva, Kjunnej K; Volkov, Denis D; Mandryka, Pavel P; Kharinskii, Artur A; Tishkin, Alexey A; Ineshin, Evgenij E; Kovychev, Evgeniy E; Stepanov, Aleksandr A; Dalén, Love L; Günther, Torsten T; Kırdök, Emrah E; Jakobsson, Mattias M; Somel, Mehmet M; Krzewińska, Maja M; Storå, Jan J; Götherström, Anders A
Publication Date: 2021-01

Variant appearance in text: KIT: S28C
PubMed Link: 33523963
Variant Present in the following documents:
  • abc4587_SM.pdf
  • supp_7_2_eabc4587__1.pdf
View BVdb publication page



Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2019-02-08

Variant appearance in text: KIT: S28C
PubMed Link: 30736836
Variant Present in the following documents:
  • 13058_2019_1102_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Two-quartet kit* G-quadruplex is formed via double-stranded pre-folded structure.

Nucleic Acids Research
Kotar, Anita A; Rigo, Riccardo R; Sissi, Claudia C; Plavec, Janez J
Publication Date: 2019-03-18

Variant appearance in text: KIT: S28C
PubMed Link: 30590801
Variant Present in the following documents:
  • gky1269.pdf
View BVdb publication page



Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

European Journal Of Human Genetics : Ejhg
Boccuto, Luigi L; Lauri, Maria M; Sarasua, Sara M SM; Skinner, Cindy D CD; Buccella, Daniela D; Dwivedi, Alka A; Orteschi, Daniela D; Collins, Julianne S JS; Zollino, Marcella M; Visconti, Paola P; Dupont, Barb B; Tiziano, Danilo D; Schroer, Richard J RJ; Neri, Giovanni G; Stevenson, Roger E RE; Gurrieri, Fiorella F; Schwartz, Charles E CE
Publication Date: 2013-03

Variant appearance in text: KIT: 83C>G
PubMed Link: 22892527
Variant Present in the following documents:
  • Main text
View BVdb publication page