Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.G692G

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.G692G
c.2076C>T
Surrounding Variants
1 paper
NM_000142.5
p.G692D
c.2075G>A
1 paper
NM_000142.5
p.S693insFs
c.2078_2079insA
1 paper
NM_000142.5
p.S693C
c.2078C>G
3 papers
NM_001163213.2
p.S695F
c.2084C>T
NM_000142.5
p.S693F
c.2078C>T
1 paper
NM_000142.5
p.G692fs
c.2074_2075fs
1 paper
NM_000142.5
p.G691G
c.2073G>A
2 papers
NM_000142.5
p.P694S
c.2080C>T
2 papers
NM_000142.5
p.P694L
c.2081C>T
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
2 papers
NM_000142.5
p.P694P
c.2082G>A
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