Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.Y648S

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.Y648S
c.1943A>C
Surrounding Variants
2 papers
NM_000142.5
p.Y648F
c.1943A>T
1 paper
NM_000142.5
p.Y648*
c.1944C>A
1 paper
NM_000142.5
p.K649E
c.1945A>G
2 papers
NM_000142.5
p.Y647*
c.1941C>A
2 papers
NM_000142.5
p.Y647*
c.1941C>G
1 paper
NM_000142.5
p.Y647Y
c.1941C>T
3 papers
NM_000142.5
p.Y647C
c.1940A>G
1 paper
NM_000142.5
p.K649R
c.1946A>G
2 papers
NM_000142.5
p.Y647F
c.1940A>T
2 papers
NM_001163213.2
p.K651K
c.1953G>A
88 papers
NM_000142.5
p.K650Q
c.1948A>C
NM_001163213.2
p.K652Q
c.1954A>C
407 papers
NM_000142.5
p.K650E
c.1948A>G
NM_022965.4
p.K538E
c.1612A>G
NM_001163213.2
p.K652E
c.1954A>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."