Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.H412Y

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.H412Y
c.1234C>T
Surrounding Variants
1 paper
NM_000142.5
p.H412N
c.1234C>A
1 paper
NM_000142.5
p.V411A
c.1232T>C
1 paper
NM_000142.5
p.K413E
c.1237A>G
3 papers
NM_000142.5
p.V411M
c.1231G>A
1 paper
NM_000142.5
p.V411L
c.1231G>C
1 paper
NM_000142.5
p.V411L
c.1231G>T
2 papers
NM_000142.5
p.K413R
c.1238A>G
4 papers
NM_000142.5
p.T410I
c.1229C>T
3 papers
NM_000142.5
p.K413N
c.1239G>C
3 papers
NM_000142.5
p.K413N
c.1239G>T
1 paper
NM_000142.5
p.T410fs
c.1228_1229fs
3 papers
NM_000142.5
p.T410P
c.1228A>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."