APC c.1650T>G ;(p.N550K)

Variant ID: 5-112164576-T-G

NM_000038.5(APC):c.1650T>G;(p.N550K)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Pan-tumor landscape of fibroblast growth factor receptor 1-4 genomic alterations.

Esmo Open
Murugesan, K K; Necchi, A A; Burn, T C TC; Gjoerup, O O; Greenstein, R R; Krook, M M; López, J A JA; Montesion, M M; Nimeiri, H H; Parikh, A R AR; Roychowdhury, S S; Schwemmers, S S; Silverman, I M IM; Vogel, A A
Publication Date: 2022-11-30

Variant appearance in text: APC: N550K
PubMed Link: 36462464
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Cell Reports
Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ
Publication Date: 2021-11-16

Variant appearance in text: APC: 1650T>G; Asn550Lys
PubMed Link: 34788622
Variant Present in the following documents:
  • NIHMS1757901-supplement-2.xlsx, sheet 3
View BVdb publication page



APC Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome.

Genes
Disciglio, Vittoria V; Forte, Giovanna G; Fasano, Candida C; Sanese, Paola P; Lepore Signorile, Martina M; De Marco, Katia K; Grossi, Valentina V; Cariola, Filomena F; Simone, Cristiano C
Publication Date: 2021-02-28

Variant appearance in text: APC: N550K
PubMed Link: 33670833
Variant Present in the following documents:
  • Main text
  • genes-12-00353.pdf
View BVdb publication page



Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications
Lang, Guan-Tian GT; Jiang, Yi-Zhou YZ; Shi, Jin-Xiu JX; Yang, Fan F; Li, Xiao-Guang XG; Pei, Yu-Chen YC; Zhang, Chen-Hui CH; Ma, Ding D; Xiao, Yi Y; Hu, Peng-Chen PC; Wang, Hai H; Yang, Yun-Song YS; Guo, Lin-Wei LW; Lu, Xun-Xi XX; Xue, Meng-Zhu MZ; Wang, Peng P; Cao, A-Yong AY; Ling, Hong H; Wang, Zhong-Hua ZH; Yu, Ke-Da KD; Di, Gen-Hong GH; Li, Da-Qiang DQ; Wang, Yun-Jin YJ; Yu, Ying Y; Shi, Le-Ming LM; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM
Publication Date: 2020-11-10

Variant appearance in text: APC: N550K
PubMed Link: 33173047
Variant Present in the following documents:
  • 41467_2020_19342_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive pharmacogenomic characterization of gastric cancer.

Genome Medicine
Sa, Jason K JK; Hong, Jung Yong JY; Lee, In-Kyoung IK; Kim, Ju-Sun JS; Sim, Moon-Hee MH; Kim, Ha Jung HJ; An, Ji Yeong JY; Sohn, Tae Sung TS; Lee, Joon Ho JH; Bae, Jae Moon JM; Kim, Sung S; Kim, Kyoung-Mee KM; Kim, Seung Tae ST; Park, Se Hoon SH; Park, Joon Oh JO; Lim, Ho Yeong HY; Kang, Won Ki WK; Her, Nam-Gu NG; Lee, Yeri Y; Cho, Hee Jin HJ; Shin, Yong Jae YJ; Kim, Misuk M; Koo, Harim H; Kim, Mirinae M; Seo, Yun Jee YJ; Kim, Ja Yeon JY; Choi, Min-Gew MG; Nam, Do-Hyun DH; Lee, Jeeyun J
Publication Date: 2020-02-18

Variant appearance in text: APC: N550K
PubMed Link: 32070411
Variant Present in the following documents:
  • 13073_2020_717_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: APC: Asn550Lys
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Structures of the APC-ARM domain in complexes with discrete Amer1/WTX fragments reveal that it uses a consensus mode to recognize its binding partners.

Cell Discovery
Zhang, Zhenyi Z; Akyildiz, Senem S; Xiao, Yafei Y; Gai, Zhongchao Z; An, Ying Y; Behrens, Jürgen J; Wu, Geng G
Publication Date: 2015

Variant appearance in text: APC: N550K
PubMed Link: 27462415
Variant Present in the following documents:
  • celldisc201516.pdf
View BVdb publication page