APC c.1521C>A ;(p.N507K)

Variant ID: 5-112162917-C-A

NM_000038.5(APC):c.1521C>A;(p.N507K)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: N507K
PubMed Link: 33670833
Variant Present in the following documents:
  • Main text
  • genes-12-00353.pdf
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Striatin is a novel modulator of cell adhesion.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Lahav-Ariel, Lital L; Caspi, Michal M; Nadar-Ponniah, Prathamesh T PT; Zelikson, Natalie N; Hofmann, Ilse I; Hanson, Kirsten K KK; Franke, Werner W WW; Sklan, Ella H EH; Avraham, Karen B KB; Rosin-Arbesfeld, Rina R
Publication Date: 2019-04

Variant appearance in text: APC: N507K
PubMed Link: 30592649
Variant Present in the following documents:
  • Main text
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Truncated Adenomatous Polyposis Coli Mutation Induces Asef-Activated Golgi Fragmentation.

Molecular And Cellular Biology
Kim, Sang Bum SB; Zhang, Lu L; Yoon, Jimok J; Lee, Jeon J; Min, Jaewon J; Li, Wenlin W; Grishin, Nick V NV; Moon, Young-Ah YA; Wright, Woodring E WE; Shay, Jerry W JW
Publication Date: 2018-09-01

Variant appearance in text: APC: N507K
PubMed Link: 29866653
Variant Present in the following documents:
  • Main text
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: N507K
PubMed Link: 27462415
Variant Present in the following documents:
  • Main text
  • celldisc201516.pdf
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Amer2 protein is a novel negative regulator of Wnt/β-catenin signaling involved in neuroectodermal patterning.

The Journal Of Biological Chemistry
Pfister, Astrid S AS; Tanneberger, Kristina K; Schambony, Alexandra A; Behrens, Jürgen J
Publication Date: 2012-01-13

Variant appearance in text: APC: N507K
PubMed Link: 22128170
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural basis for the recognition of Asef by adenomatous polyposis coli.

Cell Research
Zhang, Zhenyi Z; Chen, Leyi L; Gao, Lei L; Lin, Kui K; Zhu, Liang L; Lu, Yang Y; Shi, Xiaoshan X; Gao, Yuan Y; Zhou, Jing J; Xu, Ping P; Zhang, Jian J; Wu, Geng G
Publication Date: 2012-02

Variant appearance in text: APC: N507K
PubMed Link: 21788986
Variant Present in the following documents:
  • Main text
View BVdb publication page



Release of autoinhibition of ASEF by APC leads to CDC42 activation and tumor suppression.

Nature Structural & Molecular Biology
Mitin, Natalia N; Betts, Laurie L; Yohe, Marielle E ME; Der, Channing J CJ; Sondek, John J; Rossman, Kent L KL
Publication Date: 2007-09

Variant appearance in text: APC: N507K
PubMed Link: 17704816
Variant Present in the following documents:
  • Main text
View BVdb publication page