HLA-DRB1 c.74C>T ;(p.P25L)

Variant ID: 6-32557446-G-A

NM_002124.3(HLA-DRB1):c.74C>T;(p.P25L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Journal Of The American Heart Association
Calvete, Oriol O; Garcia-Pavia, Pablo P; Domínguez, Fernando F; Mosteiro, Lluc L; Pérez-Cabornero, Lucía L; Cantalapiedra, Diego D; Zorio, Esther E; Ramón Y Cajal, Teresa T; Crespo-Leiro, Maria G MG; Teulé, Álex Á; Lázaro, Conxi C; Morente, Manuel M MM; Urioste, Miguel M; Benitez, Javier J
Publication Date: 2019-09-17

Variant appearance in text: rs148093782
PubMed Link: 31510873
Variant Present in the following documents:
  • JAH3-8-e012875.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: rs148093782
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page