KIT c.2112G>A ;(p.K704=)

Variant ID: 4-55595622-G-A

NM_000222.2(KIT):c.2112G>A;(p.K704=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: KIT: K704k
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 2
View BVdb publication page



Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed.

Genes
Buckley, Reuben M RM; Gandolfi, Barbara B; Creighton, Erica K EK; Pyne, Connor A CA; Bouhan, Delia M DM; LeRoy, Michelle L ML; Senter, David A DA; Gobble, Johnny R JR; Abitbol, Marie M; Lyons, Leslie A LA; ,
Publication Date: 2020-06-22

Variant appearance in text: KIT: 2112G>A
PubMed Link: 32580512
Variant Present in the following documents:
  • Main text
  • genes-11-00682.pdf
View BVdb publication page