Gene Variant Detail

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Gene FGFR3
Variant V555L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 V555L lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V555L has been demonstrated to confer resistance to Fgfr inhibitors in cell culture (PMID: 28034880, PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Dec 2023).
Associated Drug Resistance Y
Category Variants Paths

FGFR3 mutant FGFR3 V555L

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Transcript NM_000142.5
gDNA chr4:g.1805767G>C
cDNA c.1663G>C
Protein p.V555L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713871.2 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_006713871 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
NM_000142 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_006713873 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
NM_001163213 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_011513420 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1805767G>C c.1663G>C p.V555L 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 Protein Effect Treatment Approaches
FGFR3 V555L unknown
FGFR3 S249C FGFR3 V555L
FGFR3 Y373C FGFR3 N540K FGFR3 V555L FGFR3 L608V
FGFR3 S249C FGFR3 V553M FGFR3 V555L