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Gene TSC2
Variant S1132A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 S1132A does not lie within any known functional domains of the Tsc2 protein (UniProt.org). S1132A results in phosphorylated Tsc2 levels similar to wild-type (PMID: 23818547), but has not been fully biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 S1132A

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Transcript NM_000548.5
gDNA chr16:g.2079666T>G
cDNA c.3394T>G
Protein p.S1132A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114382.2 chr16:g.2079666T>G c.3394T>G p.S1132A RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2079666T>G c.3394T>G p.S1132A RefSeq GRCh38/hg38
XM_017023617.1 chr16:g.2079633T>G c.3394T>G p.S1132A RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2079666T>G c.3394T>G p.S1132A RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2079666T>G c.3394T>G p.S1132A RefSeq GRCh38/hg38
XM_017023617 chr16:g.2079633T>G c.3394T>G p.S1132A RefSeq GRCh38/hg38
NM_000548 chr16:g.2079666T>G c.3394T>G p.S1132A RefSeq GRCh38/hg38
NM_001406697.1 chr16:g.2086821T>G c.3394T>G p.S1132A RefSeq GRCh38/hg38
NM_001114382 chr16:g.2079666T>G c.3394T>G p.S1132A RefSeq GRCh38/hg38
XM_011522636 chr16:g.2079666T>G c.3394T>G p.S1132A RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2079666T>G c.3394T>G p.S1132A RefSeq GRCh38/hg38
NM_001406695.1 chr16:g.2086821T>G c.3394T>G p.S1132A RefSeq GRCh38/hg38
NM_001406696.1 chr16:g.2086821T>G c.3394T>G p.S1132A RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2079666T>G c.3394T>G p.S1132A RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries