Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.G533G

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.G533G
c.1599G>T
Surrounding Variants
1 paper
NM_000142.5
p.G533G
c.1599G>A
1 paper
NM_000142.5
p.K534I
c.1601A>T
1 paper
NM_000142.5
p.G533W
c.1597G>T
1 paper
NM_000142.5
p.I532I
c.1596C>T
1 paper
NM_000142.5
p.I532N
c.1595T>A
1 paper
NM_000142.5
p.I532V
c.1594A>G
4 papers
NM_000142.5
p.M531I
c.1593G>A
3 papers
NM_000142.5
p.M531I
c.1593G>C
3 papers
NM_000142.5
p.M531I
c.1593G>T
1 paper
NM_000142.5
p.K530N
c.1590G>C
1 paper
NM_000142.5
p.K530N
c.1590G>T
2 papers
NM_000142.5
p.M529I
c.1587G>A
NM_001163213.2
p.M531I
c.1593G>A
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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."