PDGFRB A537_I538delinsDN
Gene Variant Detail

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Gene PDGFRB
Variant A537_I538delinsDN
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions PDGFRB A537_I538delinsDN results in a deletion of two amino acids in the transmembrane domain of the Pdgfrb protein from amino acids 537 to 538, combined with the insertion of an aspartic acid (D) and an asparagine (N) at the same site (UniProt.org). A537_I538delinsDN leads to increased Pdgfrb activation as demonstrated by elevated Stat3 and Mapk activity in a reporter assay (PMID: 31017643), and therefore, is predicted to lead to a gain of Pdgfrb protein function.
Associated Drug Resistance
Category Variants Paths

PDGFRB mutant PDGFRB act mut PDGFRB A537_I538delinsDN

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Transcript NM_002609.4
gDNA chr5:g.150126580_150126585delinsGTTGTC
cDNA c.1609_1614delinsGACAAC
Protein p.A537_I538delinsDN
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002609.3 chr5:g.150126580_150126585delinsGTTGTC c.1609_1614delinsGACAAC p.A537_I538delinsDN RefSeq GRCh38/hg38
XM_011537659 chr5:g.150126580_150126585delinsGTTGTC c.1609_1614delinsGACAAC p.A537_I538delinsDN RefSeq GRCh38/hg38
XM_011537658 chr5:g.150126580_150126585delinsGTTGTC c.1609_1614delinsGACAAC p.A537_I538delinsDN RefSeq GRCh38/hg38
NM_002609.4 chr5:g.150126580_150126585delinsGTTGTC c.1609_1614delinsGACAAC p.A537_I538delinsDN RefSeq GRCh38/hg38
NM_002609 chr5:g.150126580_150126585delinsGTTGTC c.1609_1614delinsGACAAC p.A537_I538delinsDN RefSeq GRCh38/hg38

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References