Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene TSC2
Variant S554L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 S554L does not lie within any known functional domains of the Tsc2 protein (UniProt.org). S554L has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 S554L

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.

Transcript NM_000548.5
gDNA chr16:g.2065580C>T
cDNA c.1661C>T
Protein p.S554L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023615.1 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_001406698.1 chr16:g.2079667C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_001406690.1 chr16:g.2079277_2079278delTCinsCT c.1660_1661delTCinsCT p.S554L RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_001406692.1 chr16:g.2079277_2079278delTCinsCT c.1660_1661delTCinsCT p.S554L RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_001406693.1 chr16:g.2079277_2079278delTCinsCT c.1660_1661delTCinsCT p.S554L RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_001406694.1 chr16:g.2079277_2079278delTCinsCT c.1660_1661delTCinsCT p.S554L RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2065580C>T c.1661C>T p.S554L RefSeq GRCh38/hg38
NM_001406689.1 chr16:g.2079069_2079070delTCinsCT c.1660_1661delTCinsCT p.S554L 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries