Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.R248C

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
594 papers
NM_000142.5
p.R248C
c.742C>T
Surrounding Variants
2 papers
NM_000142.5
p.R248ins1
c.742_743insTGT
5 papers
NM_000142.5
p.R248G
c.742C>G
12 papers
NM_000142.5
p.R248H
c.743G>A
2 papers
NM_000142.5
p.R248L
c.743G>T
1 paper
NM_000142.5
p.R248R
c.744C>G
1 paper
NM_000142.5
p.S249_P250del0
c.745_750del6
2 papers
NM_000142.5
p.S249T
c.745T>A
2 papers
NM_000142.5
p.S249A
c.745T>G
2 papers
NM_000142.5
p.S249insFs
c.745_746insG
2 papers
NM_000142.5
p.S249fs
c.745_746fs
1 paper
NM_000142.5
p.S249_P250delFs
c.746_750del5
1 paper
NM_000142.5
p.S249_H251del0
c.746_751del6
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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."