KMT2A R2619C - Gene Variant Detail

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Gene KMT2A
Variant R2619C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KMT2A R2619C does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R2619C has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

KMT2A mutant KMT2A R2619C

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Transcript NM_005933.4
gDNA chr11:g.118503756C>T
cDNA c.7855C>T
Protein p.R2619C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005933 chr11:g.118503756C>T c.7855C>T p.R2619C RefSeq GRCh38/hg38
NM_005933.4 chr11:g.118503756C>T c.7855C>T p.R2619C RefSeq GRCh38/hg38
NM_005933.3 chr11:g.118503756C>T c.7855C>T p.R2619C RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • 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