Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.H274R

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.H274R
c.821A>G
Surrounding Variants
1 paper
NM_000142.5
p.H274N
c.820C>A
4 papers
NM_000142.5
p.H274Y
c.820C>T
3 papers
NM_000142.5
p.F273L
c.819C>A
3 papers
NM_000142.5
p.F273L
c.819C>G
1 paper
NM_000142.5
p.C275ins4
c.823_824ins12
3 papers
NM_000142.5
p.C275Y
c.824G>A
2 papers
NM_000142.5
p.C275F
c.824G>T
1 paper
NM_000142.5
p.F273C
c.818T>G
1 paper
NM_000142.5
p.C275W
c.825C>G
1 paper
NM_000142.5
p.K276delFs
c.826_827delAA
3 papers
NM_000142.5
p.F273L
c.817T>C
1 paper
NM_000142.5
p.F273_H274del1
c.818_820delTCC
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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."