NF1 c.2887C>T ;(p.Q963*)

Variant ID: 17-29556889-C-T

NM_001042492.2(NF1):c.2887C>T;(p.Q963*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: NF1: 2887C>T; Gln963Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Clinical impact of clonal hematopoiesis on severe COVID-19 patients without canonical risk factors.

Haematologica
Kang, Chang Kyung CK; Choi, Baekgyu B; Kim, Sugyeong S; Sun, Choong Hyun CH; Yoon, Soon Ho SH; Kim, Kyukwang K; Chang, Euijin E; Jung, Jongtak J; Choe, Pyoeng Gyun PG; Park, Wan Beom WB; Kim, Eu Suk ES; Kim, Hong Bin HB; Kim, Nam Joong NJ; Oh, Myoung-Don MD; Im, Hogune H; Kim, Joohae J; Lee, Yong Hoon YH; Lee, Jaehee J; Chun, Hyonho H; Koh, Youngil Y; Lee, Ji Yeon JY; Moon, Joon Ho JH; Song, Kyoung-Ho KH; Jung, Inkyung I
Publication Date: 2022-09-15

Variant appearance in text: NF1: 2887C>T; Gln963*
PubMed Link: 36106393
Variant Present in the following documents:
  • 2022_280621_KANG_SUPPL.pdf
View BVdb publication page



Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science
Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y
Publication Date: 2022-11

Variant appearance in text: NF1: 2887C>T; Gln963*
PubMed Link: 36065483
Variant Present in the following documents:
  • CAS-113-3972-s007.pdf
View BVdb publication page