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@jax.org

Gene PTPN11
Variant D61Y
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PTPN11 D61Y lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). D61Y results in increased activity of protein tyrosine phosphatase (PMID: 15834506), promotes proliferation in culture, and is associated with resistance to a Shp2 inhibitor (PMID: 12717436, PMID: 29568093).
Associated Drug Resistance Y

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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_002834
gDNA chr12:g.112450361G>T
cDNA c.181G>T
Protein p.D61Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002834 chr12:g.112450361G>T c.181G>T p.D61Y RefSeq GRCh38/hg38
NM_080601 chr12:g.112450361G>T c.181G>T p.D61Y RefSeq GRCh38/hg38
XM_006719526 chr12:g.112450361G>T c.181G>T p.D61Y RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 Protein Effect Treatment Approaches
PTPN11 D61Y gain of function SHP2 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PTPN11 D61Y myeloid leukemia resistant SHP099 Preclinical - Cell culture Actionable In a preclinical study, SHP099 had no effect on Erk1/2 phosphorylation, Bcl-xl expression, Parp cleavage, and growth of myeloid cells expressing PTPN11 D61Y in culture (PMID: 29568093). 29568093