Gene Variant Detail

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Gene FGFR3
Variant P253_I254insHIA
Impact List insertion
Protein Effect unknown
Gene Variant Descriptions FGFR3 P253_I254insHIA results in the insertion of three amino acids in Ig-like C2-type domain 3 of the Fgfr3 protein between amino acids 253 and 254 (UniProt.org). P253_I254insHIA has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Dec 2023).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 P253_I254insHIA

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Transcript NM_000142.5
gDNA chr4:g.1801854_1801855insCATATCGCA
cDNA c.759_760insCATATCGCA
Protein p.P253_I254insHIA
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001163213.2 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713870 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713872 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713873 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
NM_022965.4 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713868.2 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
NM_022965.3 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_011513420 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
NM_001163213 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713869 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
NM_022965 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713871 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_047449820.1 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713869.2 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
NM_000142 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713869.1 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_006713868 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA RefSeq GRCh38/hg38
XM_011513422 chr4:g.1801854_1801855insCATATCGCA c.759_760insCATATCGCA p.P253_I254insHIA 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