Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene BCORL1
Variant P1218S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BCORL1 P1218S does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). P1218S has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
Associated Drug Resistance

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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Transcript NM_021946
gDNA chrX:g.130022941C>T
cDNA c.3652C>T
Protein p.P1218S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005262453 chrX:g.130022941C>T c.3652C>T p.P1218S RefSeq GRCh38/hg38
XM_005262456 chrX:g.130022941C>T c.3652C>T p.P1218S RefSeq GRCh38/hg38
XM_017029721 chrX:g.130022941C>T c.3652C>T p.P1218S RefSeq GRCh38/hg38
NM_021946 chrX:g.130022941C>T c.3652C>T p.P1218S RefSeq GRCh38/hg38
XM_006724776 chrX:g.130022941C>T c.3652C>T p.P1218S RefSeq GRCh38/hg38
XM_005262455 chrX:g.130022941C>T c.3652C>T p.P1218S RefSeq GRCh38/hg38
NM_001184772 chrX:g.130022941C>T c.3652C>T p.P1218S RefSeq GRCh38/hg38
XM_006724777 chrX:g.130022941C>T c.3652C>T p.P1218S RefSeq GRCh38/hg38
XM_005262452 chrX:g.130022941C>T c.3652C>T p.P1218S RefSeq GRCh38/hg38
XM_005262454 chrX:g.130022941C>T c.3652C>T p.P1218S RefSeq GRCh38/hg38
XM_017029722 chrX:g.130022941C>T c.3652C>T p.P1218S 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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
BCORL1 P1218S unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References