Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.L81_V82delFs

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.L81_V82delFs
c.242_245del4
Surrounding Variants
1 paper
NM_000142.5
p.L81V
c.241C>G
1 paper
NM_000142.5
p.L81L
c.241C>T
1 paper
NM_000142.5
p.L81L
c.243G>A
2 papers
NM_000142.5
p.G80R
c.238G>A
2 papers
NM_000142.5
p.G80R
c.238G>C
1 paper
NM_000142.5
p.V82L
c.244G>C
1 paper
NM_000142.5
p.G80W
c.238G>T
2 papers
NM_000142.5
p.V82A
c.245T>C
1 paper
NM_000142.5
p.P83_E85delFs
c.247_253del7
1 paper
NM_000142.5
p.V82V
c.246G>A
4 papers
NM_000142.5
p.T79S
c.235A>T
2 papers
NM_000142.5
p.P83S
c.247C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."