TSC2 V1623G
Gene Variant Detail

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Gene TSC2
Variant V1623G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 V1623G (corresponding to V1646G in the canonical isoform) lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). V1623G results in the loss of repression of Mtorc1 as indicated by assays demonstrating increased phosphorylation of S6k in cultured cells (PMID: 18854862).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 V1623G

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Transcript NM_001114382.3
gDNA chr16:g.2086819T>G
cDNA c.4868T>G
Protein p.V1623G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406675.1 chr16:g.2088063T>G c.4868T>G p.V1623G RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2086819T>G c.4868T>G p.V1623G RefSeq GRCh38/hg38
NM_001406670.1 chr16:g.2087921T>G c.4868T>G p.V1623G RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2086819T>G c.4868T>G p.V1623G RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2086828T>G c.4868T>G p.V1623G RefSeq GRCh38/hg38

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  • 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.
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Molecular Profile Protein Effect Treatment Approaches
TSC2 V1623G loss of function mTOR Inhibitor mTORC1 Inhibitor