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Gene TSC2
Variant V692I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 V692I does not lie within any known functional domains of the Tsc2 protein (UniProt.org). V692I has not been characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 V692I

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Transcript NM_000548.5
gDNA chr16:g.2071911G>A
cDNA c.2074G>A
Protein p.V692I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001077183.2 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001406688.1 chr16:g.2076102G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001406680.1 chr16:g.2076102G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001406683.1 chr16:g.2076102G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001406684.1 chr16:g.2076102G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001406685.1 chr16:g.2076102G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001406686.1 chr16:g.2076102G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001406682.1 chr16:g.2076102G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001318831.2 chr16:g.2076102G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2071911G>A c.2074G>A p.V692I RefSeq GRCh38/hg38
NM_001406687.1 chr16:g.2076102G>A c.2074G>A p.V692I 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 V692I unknown