XPC c.1443G>C ;(p.K481N)

Variant ID: 3-14199940-C-G

NM_004628.4(XPC):c.1443G>C;(p.K481N)

This variant was identified in 4 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: XPC: K481N
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors.

Nature Genetics
Kim, Jaegil J; Mouw, Kent W KW; Polak, Paz P; Braunstein, Lior Z LZ; Kamburov, Atanas A; Kwiatkowski, David J DJ; Rosenberg, Jonathan E JE; Van Allen, Eliezer M EM; D'Andrea, Alan A; Getz, Gad G
Publication Date: 2016-06

Variant appearance in text: XPC: K481N
PubMed Link: 27111033
Variant Present in the following documents:
  • NIHMS774702-supplement-1.pdf
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: XPC: K481N
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 37
View BVdb publication page