Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.N629Y

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.N629Y
c.1885A>T
Surrounding Variants
1 paper
NM_000142.5
p.D628V
c.1883A>T
1 paper
NM_000142.5
p.N629N
c.1887C>T
6 papers
NM_000142.5
p.V630M
c.1888G>A
2 papers
NM_000142.5
p.D628N
c.1882G>A
1 paper
NM_000142.5
p.V630L
c.1888G>C
4 papers
NM_000142.5
p.E627D
c.1881G>C
4 papers
NM_000142.5
p.E627D
c.1881G>T
6 papers
NM_000142.5
p.E627K
c.1879G>A
NM_001163213.2
p.E629K
c.1885G>A
1 paper
NM_000142.5
p.M631I
c.1893G>A
1 paper
NM_000142.5
p.M631I
c.1893G>C
1 paper
NM_000142.5
p.M631I
c.1893G>T
1 paper
NM_000142.5
p.K632T
c.1895A>C
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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."