Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.L551L

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
3 papers
NM_000142.5
p.L551L
c.1653G>T
Surrounding Variants
13 papers
NM_000142.5
p.V553M
c.1657G>A
4 papers
NM_000142.5
p.V553L
c.1657G>C
5 papers
NM_000142.5
p.V553L
c.1657G>T
1 paper
NM_000142.5
p.V553A
c.1658T>C
4 papers
NM_000142.5
p.G549G
c.1647G>T
1 paper
NM_000142.5
p.G549V
c.1646G>T
59 papers
NM_000142.5
p.V555M
c.1663G>A
19 papers
NM_000142.5
p.V555L
c.1663G>C
20 papers
NM_000142.5
p.V555L
c.1663G>T
1 paper
NM_000142.5
p.V555E
c.1664T>A
1 paper
NM_000142.5
p.V555G
c.1664T>G
5 papers
NM_001163213.2
p.A560T
c.1678G>A
NM_000142.5
p.A558T
c.1672G>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."