Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.V89delFs

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.V89delFs
c.266delT
Surrounding Variants
1 paper
NM_000142.5
p.V89A
c.266T>C
1 paper
NM_000142.5
p.G90delFs
c.270delG
1 paper
NM_000142.5
p.V89_G90insFs
c.267_268insT
2 papers
NM_000142.5
p.L88fs
c.262_263fs
9 papers
NM_000142.5
p.G90R
c.268G>C
1 paper
NM_000142.5
p.G90fs
c.268_269fs
2 papers
NM_000142.5
p.Q92delFs
c.274delC
2 papers
NM_000142.5
p.V87A
c.260T>C
1 paper
NM_000142.5
p.L88delFs
c.262delC
1 paper
NM_000142.5
p.P91fs
c.271_272fs
1 paper
NM_000142.5
p.P91S
c.271C>T
2 papers
NM_000142.5
p.P91L
c.272C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."