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 FGFR2
Variant I291_Y308del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions FGFR2 I291_Y308del results in the deletion of eighteen amino acids in the Fgfr2 protein from amino acids 291 to 308 (UniProt.org). I291_Y308del has been identified in the scientific literature (Cancer Res (2023) 83 (8_Supplement): CT016), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 exon7 FGFR2 exon 7 del FGFR2 I291_Y308del

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_000141.5
gDNA chr10:g.121519994_121520047del54
cDNA c.871_924del54
Protein p.I291_Y308del18
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024447890.2 chr10:g.121515273_121518688del3416 c.871_924del3416 p.Q291_E308del18 RefSeq GRCh38/hg38
NM_001144919.2 chr10:g.121515216_121515269del54 c.871_924del54 p.A291_I308del18 RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121519994_121520047del54 c.871_924del54 p.I291_Y308del RefSeq GRCh38/hg38
NM_001320654.2 chr10:g.121498560_121500833del2274 c.871_924del2274 p.L291_E308del18 RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121515144_121515197del54 c.871_924del54 p.T291_K308del18 RefSeq GRCh38/hg38
XM_017015921.3 chr10:g.121520051_121520104del54 c.871_924del54 p.G291_Q308del18 RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121519994_121520047del54 c.871_924del54 p.I291_Y308del18 RefSeq GRCh38/hg38
XM_006717708.4 chr10:g.121520051_121520104del54 c.871_924del54 p.G291_Q308del18 RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121519994_121520047del54 c.871_924del54 p.I291_Y308del RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121519994_121520047del54 c.871_924del54 p.I291_Y308del RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121519994_121520047del54 c.871_924del54 p.I291_Y308del RefSeq GRCh38/hg38
NM_023029.2 chr10:g.121515213_121515266del54 c.871_924del54 p.I291_L308del18 RefSeq GRCh38/hg38
XM_017015924.3 chr10:g.121515193_121515246del54 c.871_924del54 p.L291_T308del18 RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121519994_121520047del54 c.871_924del54 p.I291_Y308del RefSeq GRCh38/hg38
XM_024447889.2 chr10:g.121515270_121517322del2053 c.871_924del2053 p.P291_I308del18 RefSeq GRCh38/hg38
XM_017015920.3 chr10:g.121520051_121520104del54 c.871_924del54 p.G291_Q308del18 RefSeq GRCh38/hg38
XM_006717710.5 chr10:g.121520051_121520104del54 c.871_924del54 p.G291_Q308del18 RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121519994_121520047del54 c.871_924del54 p.I291_Y308del18 RefSeq GRCh38/hg38
XM_017015925.3 chr10:g.121515193_121515246del54 c.871_924del54 p.L291_T308del18 RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121519994_121520047del54 c.871_924del54 p.I291_Y308del18 RefSeq GRCh38/hg38
XM_024447888.2 chr10:g.121515273_121518688del3416 c.871_924del3416 p.Q291_E308del18 RefSeq GRCh38/hg38
NM_001144918.2 chr10:g.121515135_121515188del54 c.871_924del54 p.K291_P308del18 RefSeq GRCh38/hg38
XM_024447891.2 chr10:g.121515195_121515248del54 c.871_924del54 p.F291_T308del18 RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121519994_121520047del54 c.871_924del54 p.I291_Y308del18 RefSeq GRCh38/hg38
NM_001144916.2 chr10:g.121515135_121515188del54 c.871_924del54 p.K291_P308del18 RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121519994_121520047del54 c.871_924del54 p.I291_Y308del18 RefSeq GRCh38/hg38
NM_001144915.2 chr10:g.121515213_121515266del54 c.871_924del54 p.I291_L308del18 RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121519994_121520047del54 c.871_924del54 p.I291_Y308del RefSeq GRCh38/hg38
XM_024447887.2 chr10:g.121515270_121517322del2053 c.871_924del2053 p.P291_I308del18 RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121519994_121520047del54 c.871_924del54 p.I291_Y308del 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
FGFR2 I291_Y308del cholangiocarcinoma predicted - sensitive Pemigatinib Case Reports/Case Series Actionable In a Phase II trial (FIGHT-207), Pemazyre (pemigatinib) treatment resulted in a partial response with a 42.5% decrease in target lesion and a progression-free survival of 14.8 months in a patient with cholangiocarcinoma harboring FGFR2 I291_Y308del (Cancer Res (2023) 83 (8_Supplement): CT016; NCT03822117). detail...