ADAM17 c.2083-60A>G

Variant ID: 2-9631340-T-C

NM_003183.4(ADAM17):c.2083-60A>G

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs10495562
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms.

Frontiers In Genetics
Kulminski, Alexander M AM; Loika, Yury Y; Huang, Jian J; Arbeev, Konstantin G KG; Bagley, Olivia O; Ukraintseva, Svetlana S; Yashin, Anatoliy I AI; Culminskaya, Irina I
Publication Date: 2019

Variant appearance in text: rs10495562
PubMed Link: 31134135
Variant Present in the following documents:
  • Main text
  • fgene-10-00433.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ADAM17: 2083-60A>G; rs10495562
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs10495562
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



CardioGxE, a catalog of gene-environment interactions for cardiometabolic traits.

Biodata Mining
Parnell, Laurence D LD; Blokker, Britt A BA; Dashti, Hassan S HS; Nesbeth, Paula-Dene PD; Cooper, Brittany Elle BE; Ma, Yiyi Y; Lee, Yu-Chi YC; Hou, Ruixue R; Lai, Chao-Qiang CQ; Richardson, Kris K; Ordovás, José M JM
Publication Date: 2014

Variant appearance in text: rs10495562
PubMed Link: 25368670
Variant Present in the following documents:
  • Main text
  • 1756-0381-7-21.pdf
View BVdb publication page