Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.K583M

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
5 papers
NM_000142.5
p.K583M
c.1748A>T
NM_022965.4
p.K471M
c.1412A>T
NM_001163213.2
p.K585M
c.1754A>T
Surrounding Variants
1 paper
NM_000142.5
p.P584A
c.1750C>G
1 paper
NM_000142.5
p.P584S
c.1750C>T
1 paper
NM_000142.5
p.C582Y
c.1745G>A
3 papers
NM_000142.5
p.C582S
c.1745G>C
3 papers
NM_000142.5
p.C582F
c.1745G>T
3 papers
NM_000142.5
p.C582S
c.1744T>A
2 papers
NM_000142.5
p.P585S
c.1753C>T
1 paper
NM_000142.5
p.P585L
c.1754C>T
1 paper
NM_000142.5
p.D580D
c.1740C>T
1 paper
NM_000142.5
p.E586K
c.1756G>A
1 paper
NM_000142.5
p.E586G
c.1757A>G
8 papers
NM_000142.5
p.D580N
c.1738G>A
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