BTK Y315N
Gene Variant Detail

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Gene BTK
Variant Y315N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BTK Y315N lies within the SH2 domain of the Btk protein (UniProt.org). Y315N retains binding to Plcg2 and Cdc37 and demonstrates Plcg2 phosphorylation and Btk autophosphorylation levels similar to wild-type Btk, but results in decreased protein stability and expression, elevated phosphorylation of Akt in anti-immunoglobulin treated cells, and is associated with resistance to Btk inhibition in culture (PMID: 33419778), and therefore, its effect on Btk protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

BTK mutant BTK Y315N

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Transcript NM_000061.3
gDNA chrX:g.101358648A>T
cDNA c.943T>A
Protein p.Y315N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001287345.1 chrX:g.101358648A>T c.943T>A p.Y315N RefSeq GRCh38/hg38
NM_000061.3 chrX:g.101358648A>T c.943T>A p.Y315N RefSeq GRCh38/hg38
NM_001287345.2 chrX:g.101358648A>T c.943T>A p.Y315N RefSeq GRCh38/hg38
NM_000061.2 chrX:g.101358648A>T c.943T>A p.Y315N 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")

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  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries