ALK c.3808G>A ;(p.D1270N)

Variant ID: 2-29432680-C-T

NM_004304.4(ALK):c.3808G>A;(p.D1270N)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


EML4-ALK Variant 3 Promotes Mitotic Errors and Spindle Assembly Checkpoint Deficiency Leading to Increased Microtubule Poison Sensitivity.

Molecular Cancer Research : Mcr
Lucken, Kellie K; O'Regan, Laura L; Choi, Jene J; Sampson, Josephina J; Pashley, Sarah L SL; Bayliss, Richard R; Khan, Sam S; Fry, Andrew M AM
Publication Date: 2022-06-03

Variant appearance in text: ALK: D1270N
PubMed Link: 35656694
Variant Present in the following documents:
  • Main text
  • 854.pdf
View BVdb publication page



Phase-separated foci of EML4-ALK facilitate signalling and depend upon an active kinase conformation.

Embo Reports
Sampson, Josephina J; Richards, Mark W MW; Choi, Jene J; Fry, Andrew M AM; Bayliss, Richard R
Publication Date: 2021-12-06

Variant appearance in text: ALK: D1270N
PubMed Link: 34661367
Variant Present in the following documents:
  • Main text
  • EMBR-22-e53693.pdf
View BVdb publication page



Phase-separated foci of EML4-ALK facilitate signalling and depend upon an active kinase conformation.

Embo Reports
Sampson, Josephina J; Richards, Mark W MW; Choi, Jene J; Fry, Andrew M AM; Bayliss, Richard R
Publication Date: 2021-12-06

Variant appearance in text: ALK: D1270N
PubMed Link: 34661367
Variant Present in the following documents:
  • Main text
  • EMBR-22-e53693.pdf
View BVdb publication page



EML4-ALK V3 oncogenic fusion proteins promote microtubule stabilization and accelerated migration through NEK9 and NEK7.

Journal Of Cell Science
O'Regan, Laura L; Barone, Giancarlo G; Adib, Rozita R; Woo, Chang Gok CG; Jeong, Hui Jeong HJ; Richardson, Emily L EL; Richards, Mark W MW; Muller, Patricia A J PAJ; Collis, Spencer J SJ; Fennell, Dean A DA; Choi, Jene J; Bayliss, Richard R; Fry, Andrew M AM
Publication Date: 2020-05-11

Variant appearance in text: ALK: D1270N
PubMed Link: 32184261
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.

Cancers
Fernandez-Rozadilla, Ceres C; Alvarez-Barona, Miriam M; Schamschula, Esther E; Bodo, Sahra S; Lopez-Novo, Anael A; Dacal, Andres A; Calviño-Costas, Consuelo C; Lancho, Angel A; Amigo, Jorge J; Bello, Xabier X; Cameselle-Teijeiro, Jose Manuel JM; Carracedo, Angel A; Colas, Chrystelle C; Muleris, Martine M; Wimmer, Katharina K; Ruiz-Ponte, Clara C
Publication Date: 2019-07-30

Variant appearance in text: ALK: D1270N
PubMed Link: 31366136
Variant Present in the following documents:
  • cancers-11-01081-s001.pdf
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: ALK: D1270N
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page



Genetic heterogeneity of actionable genes between primary and metastatic tumor in lung adenocarcinoma.

Bmc Cancer
Kim, Eun Young EY; Cho, Eun Na EN; Park, Heae Surng HS; Kim, Arum A; Hong, Ji Young JY; Lim, Seri S; Youn, Jong Pil JP; Hwang, Seung Yong SY; Chang, Yoon Soo YS
Publication Date: 2016-01-18

Variant appearance in text: ALK: 3808G>A; Asp1270Asn
PubMed Link: 26782967
Variant Present in the following documents:
  • 12885_2016_2049_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page