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 FGFR1
Variant M532T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 M532T lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). M532T has been identified in the scientific literature (PMID: 38986210, PMID: 36446043), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 M532T

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_023110.3
gDNA chr8:g.38417374A>G
cDNA c.1595T>C
Protein p.M532T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_015850.4 chr8:g.38417368A>G c.1595T>C p.M532T RefSeq GRCh38/hg38
NM_001354367.2 chr8:g.38417368A>G c.1595T>C p.M532T RefSeq GRCh38/hg38
NM_001174065.2 chr8:g.38417368A>G c.1595T>C p.M532T RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38417374A>G c.1595T>C p.M532T RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38417368A>G c.1595T>C p.M532T 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
FGFR1 M532T transitional cell carcinoma predicted - sensitive Pembrolizumab + Pemigatinib Case Reports/Case Series Actionable In a Phase I trial (FIGHT-101), treatment with the combination of Pemazyre (pemigatinib) and Keytruda (pembrolizumab) demonstrated safety in patients with advanced solid tumors and resulted in an objective response rate of 26.9% (7/26, all partial responses), including a partial response with a duration of response of 6.5 months in a patient with urothelial cancer harboring FGFR1 M532T (PMID: 38986210; NCT02393248). 38986210