Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.Y577H

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.Y577H
c.1729T>C
Surrounding Variants
1 paper
NM_000142.5
p.Y577F
c.1730A>T
1 paper
NM_000142.5
p.D576N
c.1726G>A
1 paper
NM_000142.5
p.S578S
c.1734C>T
1 paper
NM_000142.5
p.G574A
c.1721G>C
8 papers
NM_000142.5
p.D580N
c.1738G>A
1 paper
NM_000142.5
p.D580H
c.1738G>C
1 paper
NM_000142.5
p.G574fs
c.1720_1721fs
1 paper
NM_000142.5
p.P573insFs
c.1719dupG
1 paper
NM_000142.5
p.P573L
c.1718C>T
1 paper
NM_000142.5
p.D580D
c.1740C>T
1 paper
NM_000142.5
p.P573fs
c.1717_1718fs
1 paper
NM_000142.5
p.P573S
c.1717C>T
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