APOB c.8213T>A ;(p.I2738K)

Variant ID: 2-21231527-A-T

NM_000384.2(APOB):c.8213T>A;(p.I2738K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Destabilization of mutated human PUS3 protein causes intellectual disability.

Human Mutation
Lin, Ting-Yu TY; Smigiel, Robert R; Kuzniewska, Bozena B; Chmielewska, Joanna J JJ; Kosińska, Joanna J; Biela, Mateusz M; Biela, Anna A; Kościelniak, Anna A; Dobosz, Dominika D; Laczmanska, Izabela I; Chramiec-Głąbik, Andrzej A; Jeżowski, Jakub J; Nowak, Jakub J; Gos, Monika M; Rzonca-Niewczas, Sylwia S; Dziembowska, Magdalena M; Ploski, Rafał R; Glatt, Sebastian S
Publication Date: 2022-09-20

Variant appearance in text: APOB: 8213T>A; Ile2738Lys
PubMed Link: 36125428
Variant Present in the following documents:
  • HUMU-43-2063-s002.xlsx, sheet 3
View BVdb publication page



Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Genes
Madar, László L; Juhász, Lilla L; Szűcs, Zsuzsanna Z; Kerkovits, Lóránt L; Harangi, Mariann M; Balogh, István I
Publication Date: 2022-01-15

Variant appearance in text: APOB: 8213T>A; Ile2738Lys
PubMed Link: 35052492
Variant Present in the following documents:
  • Main text
  • genes-13-00153.pdf
View BVdb publication page



Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Genes
Madar, László L; Juhász, Lilla L; Szűcs, Zsuzsanna Z; Kerkovits, Lóránt L; Harangi, Mariann M; Balogh, István I
Publication Date: 2022-01-15

Variant appearance in text: APOB: 8213T>A; Ile2738Lys
PubMed Link: 35052492
Variant Present in the following documents:
  • Main text
  • genes-13-00153.pdf
View BVdb publication page