Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.A165P

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.A165P
c.493G>C
Surrounding Variants
11 papers
NM_000142.5
p.L164V
c.490C>G
1 paper
NM_000142.5
p.V166M
c.496G>A
1 paper
NM_000142.5
p.V166G
c.497T>G
7 papers
NM_000142.5
p.P167S
c.499C>T
1 paper
NM_000142.5
p.L163delFs
c.487delC
2 papers
NM_000142.5
p.K162*
c.484A>T
1 paper
NM_000142.5
p.K162_L163delFs
c.485_488del4
1 paper
NM_000142.5
p.A168T
c.502G>A
1 paper
NM_000142.5
p.A168P
c.502G>C
1 paper
NM_000142.5
p.A168S
c.502G>T
1 paper
NM_000142.5
p.K161E
c.481A>G
1 paper
NM_000142.5
p.K161_L163delFs
c.482_488del7
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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."