Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.R416L

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.R416L
c.1247G>T
Surrounding Variants
1 paper
NM_000142.5
p.R416H
c.1247G>A
1 paper
NM_000142.5
p.R416G
c.1246C>G
1 paper
NM_000142.5
p.R416R
c.1248C>G
1 paper
NM_001163213.2
p.R418C
c.1252C>T
1 paper
NM_000142.5
p.R416_Q422delFs
c.1247_1266del20
3 papers
NM_000142.5
p.S415F
c.1244C>T
1 paper
NM_000142.5
p.F417F
c.1251C>T
1 paper
NM_000142.5
p.I414M
c.1242C>G
3 papers
NM_000142.5
p.P418S
c.1252C>T
1 paper
NM_000142.5
p.P418L
c.1253C>T
2 papers
NM_000142.5
p.I414F
c.1240A>T
1 paper
NM_000142.5
p.L419F
c.1255C>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."