Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.Y152H

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.Y152H
c.454T>C
Surrounding Variants
1 paper
NM_000142.5
p.W153_P156delFs
c.457_467del11
1 paper
NM_000142.5
p.P151H
c.452C>A
1 paper
NM_000142.5
p.P151L
c.452C>T
3 papers
NM_000142.5
p.P151S
c.451C>T
1 paper
NM_000142.5
p.W153insFs
c.458dupG
1 paper
NM_000142.5
p.A150V
c.449C>T
1 paper
NM_000142.5
p.W153C
c.459G>C
1 paper
NM_000142.5
p.W153C
c.459G>T
1 paper
NM_000142.5
p.T154A
c.460A>G
1 paper
NM_000142.5
p.A150T
c.448G>A
1 paper
NM_000142.5
p.A150P
c.448G>C
2 papers
NM_000142.5
p.A150fs
c.448_449fs
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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."