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Gene TSC2
Variant S1090C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 S1090C does not lie within any known functional domains of the Tsc2 protein (UniProt.org). S1090C has not been characterized in the scientific literature and therefore, its effect on Tsc2 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 S1090C

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Transcript NM_000548.5
gDNA chr16:g.2079413C>G
cDNA c.3269C>G
Protein p.S1090C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522638.2 chr16:g.2079172C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
NM_001318827.2 chr16:g.2080276_2080277delCAinsGT c.3269_3270delCAinsGT p.S1090C RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
XM_011522636 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
NM_001318831.1 chr16:g.2083811A>T c.3268A>T p.S1090C RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
NM_000548 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
NM_001406680.1 chr16:g.2082489A>T c.3268A>T p.S1090C RefSeq GRCh38/hg38
NM_001114382 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
XM_017023617 chr16:g.2079380_2079381delCGinsGT c.3269_3270delCGinsGT p.S1090C RefSeq GRCh38/hg38
NM_001318827.1 chr16:g.2080276_2080277delCAinsGT c.3269_3270delCAinsGT p.S1090C RefSeq GRCh38/hg38
NM_001318831 chr16:g.2083811A>T c.3268A>T p.S1090C RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
NM_001318827 chr16:g.2080276_2080277delCAinsGT c.3269_3270delCAinsGT p.S1090C RefSeq GRCh38/hg38
XM_017023617.1 chr16:g.2079380_2079381delCGinsGT c.3269_3270delCGinsGT p.S1090C RefSeq GRCh38/hg38
NM_001318831.2 chr16:g.2083811A>T c.3268A>T p.S1090C RefSeq GRCh38/hg38
XM_011522638 chr16:g.2079172C>G c.3269C>G p.S1090C 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 Protein Effect Treatment Approaches
TSC2 S1090C unknown