Annotation Detail
Information
- Associated Genes
- DNMT3A
- Associated Variants
-
DNMT3A p.Arg882Leu (p.R882L)
(
ENST00000402667.1,
ENST00000683760.1,
ENST00000264709.7,
ENST00000321117.10,
ENST00000380746.8 )
DNMT3A p.Arg882Pro (p.R882P) ( ENST00000402667.1, ENST00000683760.1, ENST00000321117.10, ENST00000380746.8, ENST00000264709.7 )
DNMT3A p.Arg882His (p.R882H) ( ENST00000264709.7, ENST00000321117.10, ENST00000380746.8, ENST00000402667.1, ENST00000683760.1 )
DNMT3A p.Arg882Leu (p.R882L) ( ENST00000683760.1, ENST00000264709.7, ENST00000321117.10, ENST00000380746.8, ENST00000402667.1 )
DNMT3A p.Arg882Pro (p.R882P) ( ENST00000264709.7, ENST00000321117.10, ENST00000380746.8, ENST00000402667.1, ENST00000683760.1 )
DNMT3A p.Arg882His (p.R882H) ( ENST00000264709.7, ENST00000321117.10, ENST00000380746.8, ENST00000402667.1, ENST00000683760.1 ) - Associated Disease
- Leukemia, Myelocytic, Acute
- Source Database
- DisGeNET
- Description
- The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its ability to form active tetramers.
- Pubmed
- 24656771
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.017567776815099
- Year of publication
- 2014
Drugs