Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.K76N

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
2 papers
NM_000142.5
p.K76N
c.228G>T
Surrounding Variants
4 papers
NM_000142.5
p.K76K
c.228G>A
1 paper
NM_000142.5
p.K76R
c.227A>G
1 paper
NM_000142.5
p.K76M
c.227A>T
1 paper
NM_000142.5
p.D77H
c.229G>C
2 papers
NM_000142.5
p.D77delFs
c.230delA
1 paper
NM_000142.5
p.K76_T79delFs
c.227_236del10
1 paper
NM_000142.5
p.V75V
c.225C>A
1 paper
NM_000142.5
p.G78S
c.232G>A
1 paper
NM_000142.5
p.V75A
c.224T>C
1 paper
NM_000142.5
p.T79del1
c.235_236delACA
1 paper
NM_000142.5
p.W74*
c.222G>A
1 paper
NM_000142.5
p.W74C
c.222G>T
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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."