NF1 c.545A>G ;(p.Y182C)

Variant ID: 17-29496974-A-G

NM_001042492.2(NF1):c.545A>G;(p.Y182C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: NF1: 545A>G
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Novel Polymorphisms and Genetic Characteristics of the Prion Protein Gene (PRNP) in Dogs-A Resistant Animal of Prion Disease.

International Journal Of Molecular Sciences
Kim, Dong-Ju DJ; Kim, Yong-Chan YC; Kim, An-Dang AD; Jeong, Byung-Hoon BH
Publication Date: 2020-06-10

Variant appearance in text: NF1: 545A>G
PubMed Link: 32532135
Variant Present in the following documents:
  • Main text
  • ijms-21-04160.pdf
View BVdb publication page



Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours.

Nature Communications
Johansson, Peter A PA; Brooks, Kelly K; Newell, Felicity F; Palmer, Jane M JM; Wilmott, James S JS; Pritchard, Antonia L AL; Broit, Natasa N; Wood, Scott S; Carlino, Matteo S MS; Leonard, Conrad C; Koufariotis, Lambros T LT; Nathan, Vaishnavi V; Beasley, Aaron B AB; Howlie, Madeleine M; Dawson, Rebecca R; Rizos, Helen H; Schmidt, Chris W CW; Long, Georgina V GV; Hamilton, Hayley H; Kiilgaard, Jens F JF; Isaacs, Timothy T; Gray, Elin S ES; Rolfe, Olivia J OJ; Park, John J JJ; Stark, Andrew A; Mann, Graham J GJ; Scolyer, Richard A RA; Pearson, John V JV; van Baren, Nicolas N; Waddell, Nicola N; Wadt, Karin W KW; McGrath, Lindsay A LA; Warrier, Sunil K SK; Glasson, William W; Hayward, Nicholas K NK
Publication Date: 2020-05-15

Variant appearance in text: NF1: 545A>G; Tyr182Cys
PubMed Link: 32415113
Variant Present in the following documents:
  • 41467_2020_16276_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page