Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.I538F

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
5 papers
NM_000142.5
p.I538F
c.1612A>T
Surrounding Variants
53 papers
NM_000142.5
p.I538V
c.1612A>G
1 paper
NM_000142.5
p.N540H
c.1618A>C
5 papers
NM_000142.5
p.N540D
c.1618A>G
1 paper
NM_000142.5
p.N540Y
c.1618A>T
38 papers
NM_000142.5
p.N540T
c.1619A>C
49 papers
NM_000142.5
p.N540S
c.1619A>G
255 papers
NM_000142.5
p.N540K
c.1620C>A
NM_001163213.2
p.N542K
c.1626C>A
255 papers
NM_000142.5
p.N540K
c.1620C>G
NM_001163213.2
p.N542K
c.1626C>G
1 paper
NM_000142.5
p.K534I
c.1601A>T
1 paper
NM_000142.5
p.G533G
c.1599G>A
1 paper
NM_000142.5
p.G533G
c.1599G>T
1 paper
NM_001163213.2
p.G545S
c.1633G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."