Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.L113H

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
2 papers
NM_000142.5
p.L113H
c.338T>A
Surrounding Variants
1 paper
NM_000142.5
p.L113L
c.339C>A
1 paper
NM_000142.5
p.L113V
c.337C>G
1 paper
NM_000142.5
p.T114M
c.341C>T
2 papers
NM_000142.5
p.R112Q
c.335G>A
1 paper
NM_000142.5
p.R112W
c.334C>T
1 paper
NM_000142.5
p.R112delFs
c.336delG
5 papers
NM_000142.5
p.T114T
c.342G>C
1 paper
NM_000142.5
p.Q115*
c.343C>T
1 paper
NM_000142.5
p.Q111H
c.333G>C
1 paper
NM_000142.5
p.Q111H
c.333G>T
8 papers
NM_000142.5
p.Q115R
c.344A>G
2 papers
NM_000142.5
p.Q115L
c.344A>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."