Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.S60_C61delins

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.S60_C61delins
c.180_181delinsAA
Surrounding Variants
1 paper
NM_000142.5
p.S60N
c.179G>A
1 paper
NM_000142.5
p.S60T
c.179G>C
1 paper
NM_000142.5
p.P63_P68del0
c.187_204del18
1 paper
NM_000142.5
p.S60C
c.178A>T
2 papers
NM_000142.5
p.C61Y
c.182G>A
1 paper
NM_000142.5
p.P62T
c.184C>A
3 papers
NM_000142.5
p.P62S
c.184C>T
1 paper
NM_000142.5
p.L59Q
c.176T>A
1 paper
NM_000142.5
p.P62H
c.185C>A
1 paper
NM_000142.5
p.P62R
c.185C>G
1 paper
NM_000142.5
p.P62L
c.185C>T
1 paper
NM_000142.5
p.P63_M69delFs
c.187_205del19
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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."