Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.G405D

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.G405D
c.1214G>A
Surrounding Variants
1 paper
NM_000142.5
p.G405V
c.1214G>T
1 paper
NM_000142.5
p.G405S
c.1213G>A
1 paper
NM_000142.5
p.G405fs
c.1213_1214fs
2 papers
NM_000142.5
p.K404N
c.1212A>C
2 papers
NM_000142.5
p.K404N
c.1212A>T
1 paper
NM_000142.5
p.L406M
c.1216C>A
1 paper
NM_000142.5
p.K404R
c.1211A>G
1 paper
NM_000142.5
p.L406R
c.1217T>G
1 paper
NM_000142.5
p.K404E
c.1210A>G
2 papers
NM_000142.5
p.L406L
c.1218G>C
1 paper
NM_000142.5
p.L406_G407insFs
c.1218_1219insC
1 paper
NM_000142.5
p.G407fs
c.1219_1220fs
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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."