KIT c.82T>G ;(p.S28A)

Variant ID: 4-55561692-T-G

NM_000222.2(KIT):c.82T>G;(p.S28A)

This variant was identified in 4 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: S28a
PubMed Link: 37041647
Variant Present in the following documents:
  • Main text
  • 13059_2023_Article_2903.pdf
View BVdb publication page



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: S28A; rs1330171716
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: S28A
PubMed Link: 33523963
Variant Present in the following documents:
  • supp_7_2_eabc4587__1.pdf
  • abc4587_SM.pdf
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: S28A
PubMed Link: 30590801
Variant Present in the following documents:
  • gky1269.pdf
View BVdb publication page