UNG c.392del ;(p.P131Hfs*13)

Variant ID: 12-109537041-AC-A

NM_080911.2(UNG):c.392del;(p.P131Hfs*13)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Frontiers In Immunology
Suratannon, Narissara N; van Wijck, Rogier T A RTA; Broer, Linda L; Xue, Laixi L; van Meurs, Joyce B J JBJ; Barendregt, Barbara H BH; van der Burg, Mirjam M; Dik, Willem A WA; Chatchatee, Pantipa P; Langerak, Anton W AW; Swagemakers, Sigrid M A SMA; Goos, Jacqueline A C JAC; Mathijssen, Irene M J IMJ; Dalm, Virgil A S H VASH; Suphapeetiporn, Kanya K; Heezen, Kim C KC; Drabwell, Jose J; Uitterlinden, André G AG; van der Spek, Peter J PJ; van Hagen, P Martin PM; ,
Publication Date: 2020

Variant appearance in text: UNG: 392delC
PubMed Link: 32373116
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans.

Frontiers In Immunology
IJspeert, Hanna H; van Schouwenburg, Pauline A PA; Pico-Knijnenburg, Ingrid I; Loeffen, Jan J; Brugieres, Laurence L; Driessen, Gertjan J GJ; Blattmann, Claudia C; Suerink, Manon M; Januszkiewicz-Lewandowska, Danuta D; Azizi, Amedeo A AA; Seidel, Marcus G MG; Jacobs, Heinz H; van der Burg, Mirjam M
Publication Date: 2019

Variant appearance in text: UNG: 392delC; P131HfsX13
PubMed Link: 31507588
Variant Present in the following documents:
  • Main text
  • fimmu-10-01913.pdf
View BVdb publication page