Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.G380R

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
640 papers
NM_000142.5
p.G380R
c.1138G>C
NM_001163213.2
p.G382R
c.1144G>C
Surrounding Variants
696 papers
NM_000142.5
p.G380R
c.1138G>A
NM_001163213.2
p.G382R
c.1144G>A
NM_022965.4
p.K310_V311Splc
c.931-432G>A
1 paper
NM_000142.5
p.Y379Y
c.1137C>T
5 papers
NM_000142.5
p.G380E
c.1139G>A
3 papers
NM_000142.5
p.G380A
c.1139G>C
3 papers
NM_000142.5
p.Y379C
c.1136A>G
1 paper
NM_000142.5
p.V381M
c.1141G>A
1 paper
NM_000142.5
p.V381L
c.1141G>C
1 paper
NM_000142.5
p.V381L
c.1141G>T
14 papers
NM_000142.5
p.V381E
c.1142T>A
1 paper
NM_000142.5
p.V381A
c.1142T>C
2 papers
NM_000142.5
p.S378N
c.1133G>A
4 papers
NM_000142.5
p.S378I
c.1133G>T
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."