Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.V390L

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.V390L
c.1168G>T
Surrounding Variants
1 paper
NM_000142.5
p.V390L
c.1168G>C
1 paper
NM_000142.5
p.V390delFs
c.1168_1169delGT
2 papers
NM_000142.5
p.V390A
c.1169T>C
1 paper
NM_000142.5
p.V389E
c.1166T>A
2 papers
NM_000142.5
p.A391T
c.1171G>A
1 paper
NM_000142.5
p.V389M
c.1165G>A
204 papers
NM_000142.5
p.A391E
c.1172C>A
NM_001163213.2
p.A393E
c.1178C>A
5 papers
NM_000142.5
p.A391G
c.1172C>G
5 papers
NM_000142.5
p.A391V
c.1172C>T
1 paper
NM_000142.5
p.A392S
c.1174G>T
1 paper
NM_000142.5
p.A392G
c.1175C>G
1 paper
NM_000142.5
p.I387I
c.1161C>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."