Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.A366insFs

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.A366insFs
c.1096_1097insC
Surrounding Variants
2 papers
NM_000142.5
p.A366D
c.1097C>A
1 paper
NM_000142.5
p.A366insFs
c.1097_1098ins4
2 papers
NM_000142.5
p.E365K
c.1093G>A
1 paper
NM_000142.5
p.D367A
c.1100A>C
3 papers
NM_000142.5
p.D367G
c.1100A>G
1 paper
NM_000142.5
p.V364A
c.1091T>C
4 papers
NM_000142.5
p.E368K
c.1102G>A
1 paper
NM_001163213.2
p.E370*
c.1108G>T
1 paper
NM_000142.5
p.E368fs
c.1102_1103fs
1 paper
NM_000142.5
p.E368G
c.1103A>G
1 paper
NM_000142.5
p.L363Q
c.1088T>A
1 paper
NM_000142.5
p.L363delFs
c.1089delG
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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."