SMARCB1 E31V
Gene Variant Detail

Request Content

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@genomenon.com

Gene SMARCB1
Variant E31V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCB1 E31V lies within the DNA-binding region of the Smarcb1 protein (UniProt.org). E31V has been reported to alter a donor splice site and disrupt Smarcb1 mRNA expression in a patient sample (PMID: 19582488), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 E31V

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")

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_003073.5
gDNA chr22:g.23787261A>T
cDNA c.92A>T
Protein p.E31V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001007468.2 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_001317946.2 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_001007468.3 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
XM_011530345.2 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
XM_011530345 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_003073.4 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_001007468 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_001362877.2 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_003073.5 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_001317946 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_003073 chr22:g.23787261A>T c.92A>T p.E31V RefSeq GRCh38/hg38
NM_001317946.1 chr22:g.23787261A>T c.92A>T p.E31V 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")

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