Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.K205fs

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.K205fs
c.613_614fs
Surrounding Variants
1 paper
NM_000142.5
p.K205Q
c.613A>C
2 papers
NM_000142.5
p.K205R
c.614A>G
1 paper
NM_000142.5
p.I204insFs
c.611_612ins5
1 paper
NM_000142.5
p.K205_L206Splc
c.615+2T>G
1 paper
NM_000142.5
p.G203D
c.608G>A
4 papers
NM_000142.5
p.K205_L206Splc
c.615+6C>A
1 paper
NM_000142.5
p.G202fs
c.604_605fs
2 papers
NM_000142.5
p.I201I
c.603T>C
1 paper
NM_000142.5
p.G202delFs
c.604_605delGG
1 paper
NM_000142.5
p.I201V
c.601A>G
2 papers
NM_000142.5
p.R200H
c.599G>A
1 paper
NM_000142.5
p.R200_I201delFs
c.600_601delCA
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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."