ALK c.3781G>A ;(p.G1261S)

Variant ID: 2-29432707-C-T

NM_004304.4(ALK):c.3781G>A;(p.G1261S)

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: ALK: G1261S
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
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: G1261S
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page


Compound EGFR mutation is frequently detected with co-mutations of actionable genes and associated with poor clinical outcome in lung adenocarcinoma.

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

Variant appearance in text: ALK: 3781G>A
PubMed Link: 26785607
Variant Present in the following documents:
  • kcbt-17-03-1139235.pdf
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: 3781G>A; Gly1261Ser
PubMed Link: 26782967
Variant Present in the following documents:
  • 12885_2016_2049_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page