KMT2D c.8501C>A ;(p.S2834*)

Variant ID: 12-49432638-G-T

NM_003482.3(KMT2D):c.8501C>A;(p.S2834*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pan-cancer landscape of CD274 (PD-L1) rearrangements in 283,050 patient samples, its correlation with PD-L1 protein expression, and immunotherapy response.

Journal For Immunotherapy Of Cancer
Kelly, Andrew D AD; Murugesan, Karthikeyan K; Kuang, Zheng Z; Montesion, Meagan M; Ross, Jeffrey S JS; Albacker, Lee A LA; Huang, Richard S P RSP; Lin, Douglas I DI; Demirci, Umut U; Creeden, James J
Publication Date: 2021-11

Variant appearance in text: KMT2D: S2834*
PubMed Link: 34815356
Variant Present in the following documents:
  • jitc-2021-003550supp001.pdf
View BVdb publication page



Immunogenomics of Colorectal Cancer Response to Checkpoint Blockade: Analysis of the KEYNOTE 177 Trial and Validation Cohorts.

Gastroenterology
Bortolomeazzi, Michele M; Keddar, Mohamed Reda MR; Montorsi, Lucia L; Acha-Sagredo, Amelia A; Benedetti, Lorena L; Temelkovski, Damjan D; Choi, Subin S; Petrov, Nedyalko N; Todd, Katrina K; Wai, Patty P; Kohl, Johannes J; Denner, Tamara T; Nye, Emma E; Goldstone, Robert R; Ward, Sophia S; Wilson, Gareth A GA; Al Bakir, Maise M; Swanton, Charles C; John, Susan S; Miles, James J; Larijani, Banafshe B; Kunene, Victoria V; Fontana, Elisa E; Arkenau, Hendrik-Tobias HT; Parker, Peter J PJ; Rodriguez-Justo, Manuel M; Shiu, Kai-Keen KK; Spencer, Jo J; Ciccarelli, Francesca D FD
Publication Date: 2021-10

Variant appearance in text: KMT2D: S2834X
PubMed Link: 34197832
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page