KMT2C c.2963G>A ;(p.C988Y)

Variant ID: 7-151927021-C-T

NM_170606.2(KMT2C):c.2963G>A;(p.C988Y)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Application value of whole exome sequencing in screening and identifying novel mutations of hypopharyngeal cancer.

Scientific Reports
Yao, Jingwei J; Ding, Yubo Y; Liu, Xiong X; Huang, Jialu J; Zhang, Minghui M; Zhang, Yu Y; Lv, Yufan Y; Xie, Zhuoyi Z; Zuo, Jianhong J
Publication Date: 2023-01-03

Variant appearance in text: rs28522267
PubMed Link: 36596842
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_27273.pdf
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs28522267
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: KMT2C: C988Y; rs28522267
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: KMT2C: 2963G>A
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page