Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.V677Splc

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.V677Splc
c.2031-2A>C
Surrounding Variants
1 paper
NM_000142.5
p.V677V
c.2031C>T
1 paper
NM_000142.5
p.W678insFs
c.2033_2034insT
2 papers
NM_000142.5
p.S679F
c.2036C>T
1 paper
NM_000142.5
p.V677Splc
c.2031-13C>T
5 papers
NM_000142.5
p.V682I
c.2044G>A
1 paper
NM_000142.5
p.L683insFs
c.2047dupC
1 paper
NM_000142.5
p.V682V
c.2046C>A
1 paper
NM_000142.5
p.L684F
c.2050C>T
1 paper
NM_000142.5
p.W685*
c.2054G>A
1 paper
NM_000142.5
p.W685*
c.2055G>A
4 papers
NM_000142.5
p.E686K
c.2056G>A
1 paper
NM_000142.5
p.I687_F688insG
c.2059_2063ins3
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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."