Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.R397H

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
3 papers
NM_000142.5
p.R397H
c.1190G>A
Surrounding Variants
1 paper
NM_000142.5
p.R397L
c.1190G>T
7 papers
NM_000142.5
p.R397C
c.1189C>T
1 paper
NM_000142.5
p.L398L
c.1194G>A
1 paper
NM_001163213.2
p.L400L
c.1200G>T
16 papers
NM_000142.5
p.R399C
c.1195C>T
10 papers
NM_000142.5
p.R399H
c.1196G>A
1 paper
NM_000142.5
p.L395P
c.1184T>C
1 paper
NM_000142.5
p.L395R
c.1184T>G
2 papers
NM_000142.5
p.L395F
c.1183C>T
3 papers
NM_000142.5
p.S400fs
c.1198_1199fs
3 papers
NM_000142.5
p.S400R
c.1198A>C
1 paper
NM_000142.5
p.T394K
c.1181C>A
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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."