FGFR3 A312V
Gene Variant Detail

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Gene FGFR3
Variant A312V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 A312V lies within Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). A312V does not significantly alter serum dependency for growth in cell culture (PMID: 40526877), but has not been fully biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 A312V

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Transcript NM_000142.5
gDNA chr4:g.1803696C>T
cDNA c.935C>T
Protein p.A312V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000142.5 chr4:g.1803696C>T c.935C>T p.A312V RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1803696C>T c.935C>T p.A312V RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1803696C>T c.935C>T p.A312V RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1803696C>T c.935C>T p.A312V RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1803696C>T c.935C>T p.A312V RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1803696C>T c.935C>T p.A312V RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1803696C>T c.935C>T p.A312V RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1803696C>T c.935C>T p.A312V RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1803696C>T c.935C>T p.A312V 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References