Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.L363Q

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.L363Q
c.1088T>A
Surrounding Variants
1 paper
NM_000142.5
p.L363delFs
c.1089delG
1 paper
NM_000142.5
p.L363fs
c.1087_1088fs
1 paper
NM_000142.5
p.E362V
c.1085A>T
1 paper
NM_000142.5
p.V364A
c.1091T>C
2 papers
NM_000142.5
p.E362K
c.1084G>A
1 paper
NM_000142.5
p.E362Q
c.1084G>C
1 paper
NM_000142.5
p.E362*
c.1084G>T
2 papers
NM_000142.5
p.E365K
c.1093G>A
1 paper
NM_000142.5
p.E361D
c.1083G>C
1 paper
NM_000142.5
p.E361D
c.1083G>T
3 papers
NM_000142.5
p.E361K
c.1081G>A
1 paper
NM_000142.5
p.E361Q
c.1081G>C
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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."