PC c.511G>A ;(p.D171N)

Variant ID: 11-66638645-C-T

NM_001040716.1(PC):c.511G>A;(p.D171N)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs.

Genetics And Molecular Biology
Silva, Gerda Cristal Villalba GCV; Borsatto, Taciane T; Schwartz, Ida Vanessa Doederlein IVD; Sperb-Ludwig, Fernanda F
Publication Date: 2022

Variant appearance in text: PC: 511G>A
PubMed Link: 35167647
Variant Present in the following documents:
  • 1415-4757-GMB-45-1-e20200432.pdf
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: PC: 511G>A
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Aspartate or arginine? Validated redox state X-ray structures elucidate mechanistic subtleties of FeIV = O formation in bacterial dye-decolorizing peroxidases.

Journal Of Biological Inorganic Chemistry : Jbic : A Publication Of The Society Of Biological Inorganic Chemistry
Lučić, Marina M; Wilson, Michael T MT; Svistunenko, Dimitri A DA; Owen, Robin L RL; Hough, Michael A MA; Worrall, Jonathan A R JAR
Publication Date: 2021-10

Variant appearance in text: PC: D171N
PubMed Link: 34477969
Variant Present in the following documents:
  • 775_2021_Article_1896.pdf
View BVdb publication page



Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.

Frontiers In Pediatrics
Maguolo, Alice A; Rodella, Giulia G; Dianin, Alice A; Monge, Irene I; Messina, Martina M; Rigotti, Erika E; Pellegrini, Francesca F; Molinaro, Grazia G; Lupi, Fiorenzo F; Pasini, Andrea A; Campostrini, Natascia N; Ion Popa, Florina F; Teofoli, Francesca F; Vincenzi, Monica M; Camilot, Marta M; Piacentini, Giorgio G; Bordugo, Andrea A
Publication Date: 2021

Variant appearance in text: PC: 511G>A
PubMed Link: 34136440
Variant Present in the following documents:
  • Main text
  • fped-09-661416.pdf
View BVdb publication page



Exonuclease domain mutants of yeast DIS3 display genome instability.

Nucleus (Austin, Tex.)
Milbury, Karissa L KL; Paul, Biplab B; Lari, Azra A; Fowler, Claire C; Montpetit, Ben B; Stirling, Peter C PC
Publication Date: 2019-12

Variant appearance in text: PC: D171N
PubMed Link: 30724665
Variant Present in the following documents:
  • kncl-10-01-1578600.pdf
View BVdb publication page



Rasip1 is a RUNX1 target gene and promotes migration of NSCLC cells.

Cancer Management And Research
Chen, Yan Y; Zhang, Lin L; Liu, Lei L; Sun, Shixiu S; Zhao, Xuyang X; Wang, Yueyuan Y; Zhang, Yujie Y; Du, Jun J; Gu, Luo L
Publication Date: 2018

Variant appearance in text: PC: D171N
PubMed Link: 30349386
Variant Present in the following documents:
  • cmar-10-4537.pdf
View BVdb publication page



Chromosomal minimal critical regions in therapy-related leukemia appear different from those of de novo leukemia by high-resolution aCGH.

Plos One
Itzhar, Nathalie N; Dessen, Philippe P; Toujani, Saloua S; Auger, Nathalie N; Preudhomme, Claude C; Richon, Catherine C; Lazar, Vladimir V; Saada, Véronique V; Bennaceur, Anelyse A; Bourhis, Jean Henri JH; de Botton, Stéphane S; Bernheim, Alain A
Publication Date: 2011-02-14

Variant appearance in text: PC: D171N
PubMed Link: 21339820
Variant Present in the following documents:
  • Main text
View BVdb publication page