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Gene TSC2
Variant R1639H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 R1639H lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). R1639H has been identified in sequencing studies (PMID: 22895193, PMID: 32221016), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 R1639H

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Transcript NM_000548.5
gDNA chr16:g.2086798G>A
cDNA c.4916G>A
Protein p.R1639H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001077183 chr16:g.2088096G>A c.4916G>A p.R1639H RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2088096G>A c.4916G>A p.R1639H RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2086798G>A c.4916G>A p.R1639H RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2088096G>A c.4916G>A p.R1639H RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2088096G>A c.4916G>A p.R1639H RefSeq GRCh38/hg38
NM_000548 chr16:g.2086798G>A c.4916G>A p.R1639H RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2086798G>A c.4916G>A p.R1639H RefSeq GRCh38/hg38
NM_001406678.1 chr16:g.2088294_2088295delGGinsAT c.4916_4917delGGinsAT p.R1639H 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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries