KIF1C c.2299G>C ;(p.G767R)

Variant ID: 17-4925675-G-C

NM_006612.5(KIF1C):c.2299G>C;(p.G767R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: KIF1C: G767R
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

European Journal Of Human Genetics : Ejhg
Morais, Sara S; Raymond, Laure L; Mairey, Mathilde M; Coutinho, Paula P; Brandão, Eva E; Ribeiro, Paula P; Loureiro, José Leal JL; Sequeiros, Jorge J; Brice, Alexis A; Alonso, Isabel I; Stevanin, Giovanni G
Publication Date: 2017-11

Variant appearance in text: KIF1C: Gly767Arg
PubMed Link: 28832565
Variant Present in the following documents:
  • ejhg2017124a.pdf
View BVdb publication page