KDM5A c.1007G>A ;(p.R336K)

Variant ID: 12-463264-C-T

NM_001042603.1(KDM5A):c.1007G>A;(p.R336K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators.

Journal Of Molecular Biology
Deák, Gauri G; Cook, Atlanta G AG
Publication Date: 2022-05-15

Variant appearance in text: rs1216195736
PubMed Link: 35257783
Variant Present in the following documents:
  • mmc3.xlsx, sheet 12
View BVdb publication page



Quantifying single-cell ERK dynamics in colorectal cancer organoids reveals EGFR as an amplifier of oncogenic MAPK pathway signalling.

Nature Cell Biology
Ponsioen, Bas B; Post, Jasmin B JB; Buissant des Amorie, Julian R JR; Laskaris, Dimitrios D; van Ineveld, Ravian L RL; Kersten, Simone S; Bertotti, Andrea A; Sassi, Francesco F; Sipieter, François F; Cappe, Benjamin B; Mertens, Sander S; Verlaan-Klink, Ingrid I; Boj, Sylvia F SF; Vries, Rob G J RGJ; Rehmann, Holger H; Vandenabeele, Peter P; Riquet, Franck B FB; Trusolino, Livio L; Bos, Johannes L JL; Snippert, Hugo J G HJG
Publication Date: 2021-04

Variant appearance in text: KDM5A: R336K
PubMed Link: 33795873
Variant Present in the following documents:
  • EMS118801-supplement-Supplementary_Table_1.xlsx, sheet 1
View BVdb publication page