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Gene | KMT2A |
Variant | R2656* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | KMT2A R2656* results in a premature truncation of the Kmt2a protein at amino acid 2656 of 3969 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R2656* is predicted to lead to a loss of Kmt2a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A inact mut KMT2A R2656* |
Transcript | NM_005933.4 |
gDNA | chr11:g.118503867C>T |
cDNA | c.7966C>T |
Protein | p.R2656* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047426963.1 | chr11:g.118503771_118503773delCGTinsTGA | c.7966_7968delCGTinsTGA | p.R2656* | RefSeq | GRCh38/hg38 |
NM_005933 | chr11:g.118503867C>T | c.7966C>T | p.R2656* | RefSeq | GRCh38/hg38 |
NM_005933.3 | chr11:g.118503867C>T | c.7966C>T | p.R2656* | RefSeq | GRCh38/hg38 |
NM_005933.4 | chr11:g.118503867C>T | c.7966C>T | p.R2656* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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