Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.D646D

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.D646D
c.1938C>T
Surrounding Variants
2 papers
NM_000142.5
p.D646E
c.1938C>A
2 papers
NM_000142.5
p.D646E
c.1938C>G
3 papers
NM_000142.5
p.Y647C
c.1940A>G
2 papers
NM_000142.5
p.Y647F
c.1940A>T
6 papers
NM_000142.5
p.D646N
c.1936G>A
4 papers
NM_000142.5
p.D646Y
c.1936G>T
2 papers
NM_000142.5
p.Y647*
c.1941C>A
2 papers
NM_000142.5
p.Y647*
c.1941C>G
1 paper
NM_000142.5
p.L645L
c.1935C>T
1 paper
NM_000142.5
p.Y647Y
c.1941C>T
1 paper
NM_000142.5
p.L645_D646delFs
c.1935_1936delCG
1 paper
NM_000142.5
p.Y648S
c.1943A>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."