Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.V50F

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
1 paper
NM_000142.5
p.V50F
c.148G>T
Surrounding Variants
9 papers
NM_000142.5
p.V50I
c.148G>A
3 papers
NM_000142.5
p.L49V
c.145T>G
1 paper
NM_000142.5
p.F51insFs
c.152_153insC
1 paper
NM_000142.5
p.G52S
c.154G>A
1 paper
NM_000142.5
p.G52D
c.155G>A
1 paper
NM_000142.5
p.G52G
c.156C>A
1 paper
NM_000142.5
p.S53_G66del14
c.157_197del42
1 paper
NM_000142.5
p.S53R
c.157A>C
1 paper
NM_000142.5
p.E47K
c.139G>A
2 papers
NM_000142.5
p.S53N
c.158G>A
1 paper
NM_000142.5
p.Q46Q
c.138G>A
2 papers
NM_000142.5
p.S53T
c.158G>C
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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."