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@genomenon.com

Gene SMARCA4
Variant P1344S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCA4 P1344S lies within a region of the Smarca4 protein that is sufficient for interacting with DLX1 (UniProt.org). P1344S has been identified in sequencing studies (PMID: 22842228, PMID: 24618614), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 P1344S

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_003072.5
gDNA chr19:g.11034992C>T
cDNA c.4030C>T
Protein p.P1344S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017027163 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
NM_001128844 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_006722845 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_024451660.1 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
NM_001128849 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_017027161 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
NM_003072 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_011528198 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
NM_003072.3 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_017027160 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.11034992C>T c.4030C>T p.P1344S RefSeq GRCh38/hg38
XM_006722846 chr19:g.11034992C>T c.4030C>T p.P1344S 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