Gene Variant Detail

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Gene MPL
Variant R75H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MPL R75H lies within the extracellular domain of the Mpl protein (UniProt.org). R75H has been identified in sequencing studies (PMID: 27997549), but has not been biochemically characterized and therefore, its effect on Mpl protein function is unknown (PubMed, Apr 2020).
Associated Drug Resistance

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Transcript NM_005373
gDNA chr1:g.43338553G>A
cDNA c.224G>A
Protein p.R75H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005373 chr1:g.43338553G>A c.224G>A p.R75H RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
MPL R75H unknown