Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.Q115R

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
8 papers
NM_000142.5
p.Q115R
c.344A>G
Surrounding Variants
2 papers
NM_000142.5
p.Q115L
c.344A>T
1 paper
NM_000142.5
p.Q115*
c.343C>T
1 paper
NM_000142.5
p.R116G
c.346C>G
3 papers
NM_000142.5
p.R116C
c.346C>T
5 papers
NM_000142.5
p.T114T
c.342G>C
1 paper
NM_000142.5
p.T114M
c.341C>T
5 papers
NM_000142.5
p.R116H
c.347G>A
1 paper
NM_000142.5
p.V117_H120del4
c.349_359del12
1 paper
NM_000142.5
p.R116R
c.348C>T
1 paper
NM_000142.5
p.L113L
c.339C>A
1 paper
NM_000142.5
p.V117I
c.349G>A
2 papers
NM_000142.5
p.L113H
c.338T>A
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