Gene Variant Detail

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Gene BCORL1
Variant Q1076H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BCORL1 Q1076H does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). Q1076H is associated with increased Braf protein expression, altered gene expression, and decreased BRAF inhibitor response in a BRAF-mutant cell line in culture (PMID: 29605720), but has not been fully biochemically characterized and therefore, its effect on Bcorl1 protein function is unknown.
Associated Drug Resistance

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Transcript NM_021946
gDNA chrX:g.130016000G>T
cDNA c.3228G>T
Protein p.Q1076H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017029721 chrX:g.130016000G>T c.3228G>T p.Q1076H RefSeq GRCh38/hg38
XM_005262454 chrX:g.130016000G>T c.3228G>T p.Q1076H RefSeq GRCh38/hg38
XM_006724777 chrX:g.130016000G>T c.3228G>T p.Q1076H RefSeq GRCh38/hg38
XM_005262455 chrX:g.130016000G>T c.3228G>T p.Q1076H RefSeq GRCh38/hg38
NM_001184772 chrX:g.130016000G>T c.3228G>T p.Q1076H RefSeq GRCh38/hg38
XM_017029722 chrX:g.130016000G>T c.3228G>T p.Q1076H RefSeq GRCh38/hg38
XM_006724776 chrX:g.130016000G>T c.3228G>T p.Q1076H RefSeq GRCh38/hg38
NM_021946 chrX:g.130016000G>T c.3228G>T p.Q1076H RefSeq GRCh38/hg38
XM_005262452 chrX:g.130016000G>T c.3228G>T p.Q1076H RefSeq GRCh38/hg38
XM_005262456 chrX:g.130016000G>T c.3228G>T p.Q1076H RefSeq GRCh38/hg38
XM_005262453 chrX:g.130016000G>T c.3228G>T p.Q1076H RefSeq GRCh38/hg38

Filtering

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  • 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"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BCORL1 Q1076H BRAF V47_D380del BRAF V600E melanoma resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, a melanoma cell line harboring BRAF V600E was found to have BRAF V47_D380del and BCORL1 Q1076H mutations after acquiring resistance to Zelboraf (vemurafenib), and expression of BRAF V47_D380del and BCORL1 Q1076H in a BRAF V600E-positive melanoma cell line resulted in decreased sensitivity to Zelboraf (vemurafenib) in culture (PMID: 29605720). 29605720
BCORL1 Q1076H BRAF V600E melanoma decreased response Vemurafenib Preclinical - Cell line xenograft Actionable In a preclinical study, expression of BCORL1 Q1076H resulted in decreased sensitivity to Zelboraf (vemurafenib) in a melanoma cell line harboring BRAF V600E in culture (PMID: 29605720). 29605720
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
BCORL1 Q1076H unknown
BCORL1 Q1076H BRAF V47_D380del BRAF V600E
BCORL1 Q1076H BRAF V600E