Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.F591L

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.F591L
c.1773C>G
Surrounding Variants
2 papers
NM_000142.5
p.F591L
c.1773C>A
1 paper
NM_000142.5
p.F591S
c.1772T>C
2 papers
NM_000142.5
p.F591L
c.1771T>C
1 paper
NM_000142.5
p.D593E
c.1779C>A
1 paper
NM_000142.5
p.D593E
c.1779C>G
1 paper
NM_000142.5
p.L589R
c.1766T>G
1 paper
NM_000142.5
p.L594R
c.1781T>G
1 paper
NM_000142.5
p.V595insFs
c.1783_1784ins4
3 papers
NM_000142.5
p.E587Q
c.1759G>C
1 paper
NM_000142.5
p.E586G
c.1757A>G
1 paper
NM_000142.5
p.E586K
c.1756G>A
1 paper
NM_000142.5
p.P585L
c.1754C>T
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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."