Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.G691delFs

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
4 papers
NM_000142.5
p.G691delFs
c.2072delG
Surrounding Variants
1 paper
NM_000142.5
p.G692insFs
c.2075_2076insG
5 papers
NM_000142.5
p.G691R
c.2071G>A
5 papers
NM_000142.5
p.G691R
c.2071G>C
1 paper
NM_000142.5
p.G691fs
c.2071_2072fs
1 paper
NM_000142.5
p.T689K
c.2066C>A
3 papers
NM_000142.5
p.T689M
c.2066C>T
1 paper
NM_000142.5
p.G691G
c.2073G>A
1 paper
NM_000142.5
p.G692fs
c.2074_2075fs
1 paper
NM_000142.5
p.G692D
c.2075G>A
1 paper
NM_000142.5
p.F688S
c.2063T>C
1 paper
NM_000142.5
p.G692G
c.2076C>T
1 paper
NM_000142.5
p.I687I
c.2061C>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."