Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.F636L

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.F636L
c.1908C>A
Surrounding Variants
1 paper
NM_000142.5
p.F636L
c.1908C>G
1 paper
NM_000142.5
p.G637R
c.1909G>A
1 paper
NM_000142.5
p.G637R
c.1909G>C
3 papers
NM_000142.5
p.G637W
c.1909G>T
1 paper
NM_000142.5
p.F636L
c.1906T>C
1 paper
NM_000142.5
p.G637G
c.1911G>T
1 paper
NM_000142.5
p.L638R
c.1913T>G
1 paper
NM_000142.5
p.D635_F636delFs
c.1903_1907del5
1 paper
NM_000142.5
p.A634V
c.1901C>T
2 papers
NM_000142.5
p.A639T
c.1915G>A
11 papers
NM_000142.5
p.A634T
c.1900G>A
3 papers
NM_000142.5
p.R640W
c.1918C>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."