NLRP1 c.2344A>T ;(p.T782S)

Variant ID: 17-5461672-T-A

NM_033004.3(NLRP1):c.2344A>T;(p.T782S)

This variant was identified in 6 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: NLRP1: T782S
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



NGS study of glucocorticoid response genes in inflammatory bowel disease patients.

Archives Of Medical Science : Ams
Skrzypczak-Zielinska, Marzena M; Gabryel, Marcin M; Marszalek, Daria D; Dobrowolska, Agnieszka A; Slomski, Ryszard R
Publication Date: 2021

Variant appearance in text: NLRP1: Thr782Ser
PubMed Link: 33747278
Variant Present in the following documents:
  • Main text
  • AMS-17-2-106137.pdf
View BVdb publication page



Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: NLRP1: T782S
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.xlsx, sheet 1
View BVdb publication page



Modern vitiligo genetics sheds new light on an ancient disease.

The Journal Of Dermatology
Spritz, Richard A RA
Publication Date: 2013-05

Variant appearance in text: NLRP1: T782S
PubMed Link: 23668538
Variant Present in the following documents:
  • Main text
View BVdb publication page



NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Levandowski, Cecilia B CB; Mailloux, Christina M CM; Ferrara, Tracey M TM; Gowan, Katherine K; Ben, Songtao S; Jin, Ying Y; McFann, Kimberly K KK; Holland, Paulene J PJ; Fain, Pamela R PR; Dinarello, Charles A CA; Spritz, Richard A RA
Publication Date: 2013-02-19

Variant appearance in text: NLRP1: T782S
PubMed Link: 23382179
Variant Present in the following documents:
  • Main text
View BVdb publication page