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 TP53
Variant S127Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TP53 S127Y lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S127Y has been identified in the scientific literature (PMID: 28351930, PMID: 23967324, PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon5 TP53 S127Y

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_000546.6
gDNA chr17:g.7675232G>T
cDNA c.380C>A
Protein p.S127Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546.6 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_001276695.3 chr17:g.7675114_7675115delCAinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_001276695.1 chr17:g.7675114_7675115delCAinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001407267.1 chr17:g.7675114_7675115delCAinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001276695 chr17:g.7675114_7675115delTGinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_001276761.3 chr17:g.7675114_7675115delCAinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_000546 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_001407265.1 chr17:g.7675114_7675115delCAinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001126118 chr17:g.7675114_7675115delTGinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_001276696.3 chr17:g.7675114_7675115delCAinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001407269.1 chr17:g.7675114_7675115delCAinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_001407263.1 chr17:g.7675114_7675115delCAinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001276696 chr17:g.7675114_7675115delTGinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001126113 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_001276760 chr17:g.7675114_7675115delTGinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001276696.1 chr17:g.7675114_7675115delCAinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_001276761 chr17:g.7675114_7675115delTGinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001276761.1 chr17:g.7675114_7675115delCAinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_001276760.1 chr17:g.7675114_7675115delCAinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001407271.1 chr17:g.7675114_7675115delCAinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001126112 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7675232G>T c.380C>A p.S127Y RefSeq GRCh38/hg38
NM_001276760.3 chr17:g.7675114_7675115delCAinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001126118.1 chr17:g.7675114_7675115delCAinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001126118.2 chr17:g.7675114_7675115delCAinsAT c.380_381delCAinsAT p.S127Y RefSeq GRCh38/hg38
NM_001126114 chr17:g.7675232G>T c.380C>A p.S127Y 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