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Gene TSC2
Variant A607T
Impact List missense
Protein Effect no effect
Gene Variant Descriptions TSC2 A607T does not lie within any known functional domains of the Tsc2 protein (UniProt.org). A607T demonstrates hamartin interaction, Rheb activation, and inhibition of S6K and S6 phosphorylation to similar levels of wild-type Tsc2 in culture (PMID: 15483652).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 A607T

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Transcript NM_000548.5
gDNA chr16:g.2070558G>A
cDNA c.1819G>A
Protein p.A607T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024450413.1 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001406680.1 chr16:g.2074263G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001406698.1 chr16:g.2080320G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001406684.1 chr16:g.2074263G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_005255529 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_017023616 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_011522640 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001406688.1 chr16:g.2074263G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001406687.1 chr16:g.2074263G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_000548 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_005255531 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001406683.1 chr16:g.2074263G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001318831 chr16:g.2074263G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001406682.1 chr16:g.2074263G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001318831.1 chr16:g.2074263G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_011522636 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001318831.2 chr16:g.2074263G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001114382 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_011522637 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_017023615 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
XM_011522639 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2070558G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001406686.1 chr16:g.2074263G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001406685.1 chr16:g.2074263G>A c.1819G>A p.A607T RefSeq GRCh38/hg38
NM_001077183 chr16:g.2070558G>A c.1819G>A p.A607T 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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  • Click on any column header arrows to sort by that column
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