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Gene KMT2A
Variant K254Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KMT2A K254Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). K254Q has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Feb 2024).
Associated Drug Resistance
Category Variants Paths

KMT2A mutant KMT2A K254Q

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Transcript NM_005933.4
gDNA chr11:g.118471919A>C
cDNA c.760A>C
Protein p.K254Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542830.3 chr11:g.118471820A>C c.760A>C p.K254Q RefSeq GRCh38/hg38
NM_005933.3 chr11:g.118471919A>C c.760A>C p.K254Q RefSeq GRCh38/hg38
NM_001197104.1 chr11:g.118471919A>C c.760A>C p.K254Q RefSeq GRCh38/hg38
XM_047426963.1 chr11:g.118471820A>C c.760A>C p.K254Q RefSeq GRCh38/hg38
XM_011542830.2 chr11:g.118471820A>C c.760A>C p.K254Q RefSeq GRCh38/hg38
NM_001197104.2 chr11:g.118471919A>C c.760A>C p.K254Q RefSeq GRCh38/hg38
XM_011542829.2 chr11:g.118471820A>C c.760A>C p.K254Q RefSeq GRCh38/hg38
NM_005933.4 chr11:g.118471919A>C c.760A>C p.K254Q RefSeq GRCh38/hg38
XM_011542831.2 chr11:g.118471820A>C c.760A>C p.K254Q RefSeq GRCh38/hg38
XM_011542830 chr11:g.118471820A>C c.760A>C p.K254Q RefSeq GRCh38/hg38
XM_011542829.3 chr11:g.118471820A>C c.760A>C p.K254Q RefSeq GRCh38/hg38
NM_001197104 chr11:g.118471919A>C c.760A>C p.K254Q RefSeq GRCh38/hg38
XM_011542831 chr11:g.118471820A>C c.760A>C p.K254Q RefSeq GRCh38/hg38
NM_001412597.1 chr11:g.118471820A>C c.760A>C p.K254Q RefSeq GRCh38/hg38
NM_005933 chr11:g.118471919A>C c.760A>C p.K254Q RefSeq GRCh38/hg38
XM_011542829 chr11:g.118471820A>C c.760A>C p.K254Q RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References