Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.C545fs

FGFR3

3,257 papers

RefSeq Summary

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members ...

Pfam Domains

I-setaa 159–245UCSCImmunoglobulin I-set domain
Ig_3aa 252–343UCSCImmunoglobulin domain
FGFR3_TMaa 372–397UCSCFibroblast growth factor receptor 3 transmembrane domain
PK_Tyr_Ser-Thraa 472–748UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 3

HGNC Previous Symbol

ACH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000142.5
p.C545fs
c.1633_1634fs
Surrounding Variants
1 paper
NM_000142.5
p.C545S
c.1633T>A
2 papers
NM_000142.5
p.C545delFs
c.1633_1634delTG
1 paper
NM_000142.5
p.C545Y
c.1634G>A
1 paper
NM_000142.5
p.C545S
c.1634G>C
1 paper
NM_000142.5
p.C545C
c.1635C>T
2 papers
NM_000142.5
p.T546A
c.1636A>G
2 papers
NM_000142.5
p.A544T
c.1630G>A
12 papers
NM_000142.5
p.T546K
c.1637C>A
1 paper
NM_000142.5
p.G543G
c.1629C>T
2 papers
NM_000142.5
p.G543D
c.1628G>A
1 paper
NM_001163213.2
p.G545A
c.1634G>C
1 paper
NM_001163213.2
p.G545S
c.1633G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."