Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.D270N

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.D270N
c.808G>A
Surrounding Variants
1 paper
NM_000142.5
p.D270insFs
c.810dupC
2 papers
NM_000142.5
p.S269R
c.807C>A
2 papers
NM_000142.5
p.S269R
c.807C>G
1 paper
NM_000142.5
p.D270delFs
c.808_809delGA
1 paper
NM_000142.5
p.D270E
c.810C>A
1 paper
NM_000142.5
p.D270E
c.810C>G
1 paper
NM_000142.5
p.D270D
c.810C>T
2 papers
NM_000142.5
p.S269R
c.805A>C
1 paper
NM_000142.5
p.S269G
c.805A>G
2 papers
NM_000142.5
p.S269C
c.805A>T
1 paper
NM_000142.5
p.S269delFs
c.806delG
6 papers
NM_000142.5
p.V271M
c.811G>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."