KMT2D c.5867G>A ;(p.R1956K)

Variant ID: 12-49436344-C-T

NM_003482.3(KMT2D):c.5867G>A;(p.R1956K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic evidence suggests that cutaneous neuroendocrine carcinomas can arise from squamous dysplastic precursors.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Harms, Paul W PW; Verhaegen, Monique E ME; Hu, Kevin K; Hrycaj, Steven M SM; Chan, May P MP; Liu, Chia-Jen CJ; Grachtchouk, Marina M; Patel, Rajiv M RM; Udager, Aaron M AM; Dlugosz, Andrzej A AA
Publication Date: 2022-04

Variant appearance in text: KMT2D: R1956K
PubMed Link: 34593967
Variant Present in the following documents:
  • NIHMS1739265-supplement-Supplemental_Tables.xlsx, sheet 5
View BVdb publication page



Stress-induced precocious aging in PD-patient iPSC-derived NSCs may underlie the pathophysiology of Parkinson's disease.

Cell Death & Disease
Zhu, Liang L; Sun, Chenxi C; Ren, Jie J; Wang, Guangming G; Ma, Rongjie R; Sun, Lixin L; Yang, Danjing D; Gao, Shane S; Ning, Ke K; Wang, Zhigang Z; Chen, Xu X; Chen, Shengdi S; Zhu, Hongwen H; Gao, Zhengliang Z; Xu, Jun J
Publication Date: 2019-02-04

Variant appearance in text: KMT2D: 5867G>A; R1956K
PubMed Link: 30718471
Variant Present in the following documents:
  • 41419_2019_1313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page