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Gene TSC2
Variant V1144M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 V1144M does not lie within any known functional domains of the Tsc2 protein (UniProt.org). V1144M has been identified in the scientific literature (PMID: 22903760), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 V1144M

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Transcript NM_000548.5
gDNA chr16:g.2080197G>A
cDNA c.3430G>A
Protein p.V1144M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005255531 chr16:g.2080326G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2080326G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
NM_001318832.2 chr16:g.2080296G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2080326G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
NM_001318832.1 chr16:g.2080296G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2080326G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2080197G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
NM_000548 chr16:g.2080197G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2080326G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
XM_011522636 chr16:g.2080197G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
XM_005255529 chr16:g.2080326G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2080197G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2080326G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
XM_011522639 chr16:g.2080326G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2080197G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2080197G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2080197G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2080197G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
NM_001318832 chr16:g.2080296G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2080326G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
NM_001114382 chr16:g.2080197G>A c.3430G>A p.V1144M RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2080326G>A c.3430G>A p.V1144M 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries