Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.M69V

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.M69V
c.205A>G
Surrounding Variants
2 papers
NM_000142.5
p.M69L
c.205A>T
1 paper
NM_000142.5
p.M69fs
c.205_206fs
3 papers
NM_000142.5
p.P68S
c.202C>T
1 paper
NM_000142.5
p.G70R
c.208G>A
2 papers
NM_000142.5
p.G70R
c.208G>C
1 paper
NM_000142.5
p.P68delFs
c.204delC
1 paper
NM_000142.5
p.P68_G70del3
c.202_209del9
1 paper
NM_000142.5
p.G67D
c.200G>A
1 paper
NM_000142.5
p.P71_V75del5
c.211_224del15
1 paper
NM_000142.5
p.P71_T72insCC
c.211_215ins6
1 paper
NM_000142.5
p.P71A
c.211C>G
1 paper
NM_000142.5
p.P71S
c.211C>T
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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."