Gene Variant Detail

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Gene TSC2
Variant R57H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 R57H lies within the TSC1-interacting region of the Tsc2 protein (UniProt.org). R57H results in reduced expression of Tsc1 and Tsc2, however, also demonstrates increased S6k phosphorylation compared to wild-type Tsc2 in cultured cells (PMID: 21309039), and therefore, its effect on Tsc2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 R57H

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Transcript NM_000548.5
gDNA chr16:g.2050431G>A
cDNA c.170G>A
Protein p.R57H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001318827 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_005255529 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001318832.1 chr16:g.2048751_2048753delAGAinsCAT c.169_171delAGAinsCAT p.R57H RefSeq GRCh38/hg38
NM_001406668.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_000548 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_017023617.1 chr16:g.2047991_2047992delGGinsAT c.170_171delGGinsAT p.R57H RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406689.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406697.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
XM_017023618 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
NM_001318832.2 chr16:g.2048751_2048753delAGAinsCAT c.169_171delAGAinsCAT p.R57H RefSeq GRCh38/hg38
NM_001406693.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001318827.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_005255531 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406678.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522636 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522638.3 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406670.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406690.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
NM_001406692.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522638.2 chr16:g.2047991_2047992delGGinsAT c.170_171delGGinsAT p.R57H RefSeq GRCh38/hg38
NM_001406694.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
NM_001406671.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522640 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406691.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406673.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522638 chr16:g.2047991_2047992delGGinsAT c.170_171delGGinsAT p.R57H RefSeq GRCh38/hg38
XM_017023615 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_017023618.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406667.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406696.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001318827.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001114382 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_017023617 chr16:g.2047991_2047992delGGinsAT c.170_171delGGinsAT p.R57H RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522637 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001077183 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_017023616 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001318832 chr16:g.2048751_2048753delAGAinsCAT c.169_171delAGAinsCAT p.R57H RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522639 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406695.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H 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.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References