Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.A56V

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.A56V
c.167C>T
Surrounding Variants
1 paper
NM_000142.5
p.A56D
c.167C>A
1 paper
NM_000142.5
p.A56T
c.166G>A
3 papers
NM_000142.5
p.V57M
c.169G>A
1 paper
NM_000142.5
p.D55E
c.165T>G
2 papers
NM_000142.5
p.D55G
c.164A>G
1 paper
NM_000142.5
p.D55delFs
c.165delT
1 paper
NM_000142.5
p.V57E
c.170T>A
1 paper
NM_000142.5
p.D55N
c.163G>A
1 paper
NM_000142.5
p.V57V
c.171G>T
1 paper
NM_000142.5
p.E58K
c.172G>A
3 papers
NM_000142.5
p.G54E
c.161G>A
1 paper
NM_000142.5
p.G54V
c.161G>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."