Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.D518V

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.D518V
c.1553A>T
Surrounding Variants
1 paper
NM_000142.5
p.D518A
c.1553A>C
1 paper
NM_000142.5
p.D518N
c.1552G>A
2 papers
NM_000142.5
p.K517R
c.1550A>G
1 paper
NM_000142.5
p.D516D
c.1548C>T
1 paper
NM_000142.5
p.D516N
c.1546G>A
2 papers
NM_000142.5
p.D521N
c.1561G>A
1 paper
NM_000142.5
p.D521H
c.1561G>C
1 paper
NM_000142.5
p.D521V
c.1562A>T
1 paper
NM_000142.5
p.A514V
c.1541C>T
1 paper
NM_000142.5
p.L522L
c.1566G>A
18 papers
NM_000142.5
p.D513N
c.1537G>A
1 paper
NM_000142.5
p.D513H
c.1537G>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."