DOT1L c.487G>C ;(p.G163R)

Variant ID: 19-2191233-G-C

NM_032482.2(DOT1L):c.487G>C;(p.G163R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


DOT1L activity in leukemia cells requires interaction with ubiquitylated H2B that promotes productive nucleosome binding.

Cell Reports
Spangler, Cathy J CJ; Yadav, Satya P SP; Li, Dongxu D; Geil, Carinne N CN; Smith, Charlotte B CB; Wang, Gang Greg GG; Lee, Tae-Hee TH; McGinty, Robert K RK
Publication Date: 2022-02-15

Variant appearance in text: DOT1L: G163R
PubMed Link: 35172132
Variant Present in the following documents:
  • Main text
  • nihms-1781192.pdf
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AF10 (MLLT10) prevents somatic cell reprogramming through regulation of DOT1L-mediated H3K79 methylation.

Epigenetics & Chromatin
Uğurlu-Çimen, Deniz D; Odluyurt, Deniz D; Sevinç, Kenan K; Özkan-Küçük, Nazlı Ezgi NE; Özçimen, Burcu B; Demirtaş, Deniz D; Enüstün, Eray E; Aztekin, Can C; Philpott, Martin M; Oppermann, Udo U; Özlü, Nurhan N; Önder, Tamer T TT
Publication Date: 2021-07-02

Variant appearance in text: DOT1L: G163R
PubMed Link: 34215314
Variant Present in the following documents:
  • Main text
  • 13072_2021_Article_406.pdf
View BVdb publication page



AF10 (MLLT10) prevents somatic cell reprogramming through regulation of DOT1L-mediated H3K79 methylation.

Epigenetics & Chromatin
Uğurlu-Çimen, Deniz D; Odluyurt, Deniz D; Sevinç, Kenan K; Özkan-Küçük, Nazlı Ezgi NE; Özçimen, Burcu B; Demirtaş, Deniz D; Enüstün, Eray E; Aztekin, Can C; Philpott, Martin M; Oppermann, Udo U; Özlü, Nurhan N; Önder, Tamer T TT
Publication Date: 2021-07-02

Variant appearance in text: DOT1L: G163R
PubMed Link: 34215314
Variant Present in the following documents:
  • Main text
  • 13072_2021_Article_406.pdf
View BVdb publication page



Targeting recruitment of disruptor of telomeric silencing 1-like (DOT1L): characterizing the interactions between DOT1L and mixed lineage leukemia (MLL) fusion proteins.

The Journal Of Biological Chemistry
Shen, Chenxi C; Jo, Stephanie Y SY; Liao, Chenzhong C; Hess, Jay L JL; Nikolovska-Coleska, Zaneta Z
Publication Date: 2013-10-18

Variant appearance in text: DOT1L: G163R
PubMed Link: 23996074
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deficiency of H3K79 histone methyltransferase Dot1-like protein (DOT1L) inhibits cell proliferation.

The Journal Of Biological Chemistry
Kim, Wootae W; Kim, Ranah R; Park, Geunyeong G; Park, Jong-Wan JW; Kim, Ja-Eun JE
Publication Date: 2012-02-17

Variant appearance in text: DOT1L: G163R
PubMed Link: 22190683
Variant Present in the following documents:
  • Main text
View BVdb publication page