KRAS c.130G>A ;(p.V44I)

Variant ID: 12-25380328-C-T

NM_004985.3(KRAS):c.130G>A;(p.V44I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


.

Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
Publication Date: 2017

Variant appearance in text: KRAS: 130G>A; Val44Met
PubMed Link: 32214685
Variant Present in the following documents:
  • 11825_2017_Article_126.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: KRAS: V44I
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 3
View BVdb publication page



NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.

Scientific Reports
Wang, Bo B; Li, Jing J; Cheng, Xi X; Zhou, Qiao Q; Yang, Jingxu J; Zhang, Menghuan M; Chen, Haifeng H; Li, Jing J
Publication Date: 2018-04-16

Variant appearance in text: KRAS: V44I
PubMed Link: 29662108
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_24286.pdf
View BVdb publication page



A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.

Ebiomedicine
Viel, Alessandra A; Bruselles, Alessandro A; Meccia, Ettore E; Fornasarig, Mara M; Quaia, Michele M; Canzonieri, Vincenzo V; Policicchio, Eleonora E; Urso, Emanuele Damiano ED; Agostini, Marco M; Genuardi, Maurizio M; Lucci-Cordisco, Emanuela E; Venesio, Tiziana T; Martayan, Aline A; Diodoro, Maria Grazia MG; Sanchez-Mete, Lupe L; Stigliano, Vittoria V; Mazzei, Filomena F; Grasso, Francesca F; Giuliani, Alessandro A; Baiocchi, Marta M; Maestro, Roberta R; Giannini, Giuseppe G; Tartaglia, Marco M; Alexandrov, Ludmil B LB; Bignami, Margherita M
Publication Date: 2017-06

Variant appearance in text: KRAS: 130G>A
PubMed Link: 28551381
Variant Present in the following documents:
  • mmc7.pdf
View BVdb publication page