KMT2C c.1344G>C ;(p.Q448H)

Variant ID: 7-151949756-C-G

NM_170606.2(KMT2C):c.1344G>C;(p.Q448H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Blood Advances
Crouch, Simon S; Painter, Daniel D; Barrans, Sharon L SL; Roman, Eve E; Beer, Philip A PA; Cooke, Susanna L SL; Glover, Paul P; Van Hoppe, Suzan J L SJL; Webster, Nichola N; Lacy, Stuart E SE; Ruiz, Camilo C; Campbell, Peter J PJ; Hodson, Daniel J DJ; Patmore, Russell R; Burton, Cathy C; Smith, Alexandra A; Tooze, Reuben M RM
Publication Date: 2022-11-08

Variant appearance in text: KMT2C: Q448H
PubMed Link: 35363872
Variant Present in the following documents:
  • BLOODA_ADV-2021-005284-mmc1.xlsx, sheet 2
View BVdb publication page



DNA methylation epitypes highlight underlying developmental and disease pathways in acute myeloid leukemia.

Genome Research
Giacopelli, Brian B; Wang, Min M; Cleary, Ada A; Wu, Yue-Zhong YZ; Schultz, Anna Reister AR; Schmutz, Maximilian M; Blachly, James S JS; Eisfeld, Ann-Kathrin AK; Mundy-Bosse, Bethany B; Vosberg, Sebastian S; Greif, Philipp A PA; Claus, Rainer R; Bullinger, Lars L; Garzon, Ramiro R; Coombes, Kevin R KR; Bloomfield, Clara D CD; Druker, Brian J BJ; Tyner, Jeffrey W JW; Byrd, John C JC; Oakes, Christopher C CC
Publication Date: 2021-05

Variant appearance in text: KMT2C: Gln448His
PubMed Link: 33707228
Variant Present in the following documents:
  • supp_gr.269233.120_Supplemental_Tables_S1_S2_S8-11.xlsx, sheet 5
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: KMT2C: Gln448His
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 6
View BVdb publication page



The lysine-specific methyltransferase KMT2C/MLL3 regulates DNA repair components in cancer.

Embo Reports
Rampias, Theodoros T; Karagiannis, Dimitris D; Avgeris, Margaritis M; Polyzos, Alexander A; Kokkalis, Antonis A; Kanaki, Zoi Z; Kousidou, Evgenia E; Tzetis, Maria M; Kanavakis, Emmanouil E; Stravodimos, Konstantinos K; Manola, Kalliopi N KN; Pantelias, Gabriel E GE; Scorilas, Andreas A; Klinakis, Apostolos A
Publication Date: 2019-03

Variant appearance in text: KMT2C: Q448H
PubMed Link: 30665945
Variant Present in the following documents:
  • EMBR-20-e46821.pdf
View BVdb publication page