Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.V642A

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.V642A
c.1925T>C
Surrounding Variants
1 paper
NM_000142.5
p.V642M
c.1924G>A
3 papers
NM_000142.5
p.H643D
c.1927C>G
3 papers
NM_000142.5
p.D641G
c.1922A>G
3 papers
NM_000142.5
p.H643R
c.1928A>G
18 papers
NM_000142.5
p.D641N
c.1921G>A
1 paper
NM_000142.5
p.V642_H643del2
c.1924_1928del6
1 paper
NM_000142.5
p.N644H
c.1930A>C
3 papers
NM_001163213.2
p.N646D
c.1936A>G
NM_000142.5
p.N644D
c.1930A>G
1 paper
NM_000142.5
p.N644I
c.1931A>T
1 paper
NM_000142.5
p.R640Q
c.1919G>A
3 papers
NM_000142.5
p.R640W
c.1918C>T
1 paper
NM_000142.5
p.L645V
c.1933C>G
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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."