KMT2D c.6598C>T ;(p.P2200S)

Variant ID: 12-49434955-G-A

NM_003482.3(KMT2D):c.6598C>T;(p.P2200S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: KMT2D: P2200S
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



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: P2200S
PubMed Link: 34593967
Variant Present in the following documents:
  • NIHMS1739265-supplement-Supplemental_Tables.xlsx, sheet 5
View BVdb publication page



Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.

Cancer Science
Sakihama, Shugo S; Morichika, Kazuho K; Saito, Rumiko R; Miyara, Megumi M; Miyagi, Takashi T; Hayashi, Masaki M; Uchihara, Junnosuke J; Tomoyose, Takeaki T; Ohshiro, Kazuiku K; Nakayama, Shingo S; Nakachi, Sawako S; Morishima, Satoko S; Sakai, Kazuko K; Nishio, Kazuto K; Masuzaki, Hiroaki H; Fukushima, Takuya T; Karube, Kennosuke K
Publication Date: 2021-03

Variant appearance in text: KMT2D: P2200S
PubMed Link: 33426772
Variant Present in the following documents:
  • CAS-112-1300-s002.xlsx, sheet 4
View BVdb publication page