Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.H101_E102insFs

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.H101_E102insFs
c.303_304insCC
Surrounding Variants
1 paper
NM_000142.5
p.E102delFs
c.304delG
1 paper
NM_000142.5
p.E102K
c.304G>A
1 paper
NM_000142.5
p.E102Q
c.304G>C
5 papers
NM_000142.5
p.S100P
c.298T>C
1 paper
NM_000142.5
p.S100A
c.298T>G
1 paper
NM_000142.5
p.D103N
c.307G>A
1 paper
NM_000142.5
p.D103insFs
c.308_309insA
1 paper
NM_000142.5
p.D103delFs
c.309delC
1 paper
NM_000142.5
p.D103_Y107delins
c.308_320delinsCCTCGGGGCCTCC
3 papers
NM_000142.5
p.A99V
c.296C>T
1 paper
NM_000142.5
p.D103E
c.309C>A
1 paper
NM_000142.5
p.D103_S104insFs
c.309_310insT
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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."