Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.R570Q

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.R570Q
c.1709G>A
Surrounding Variants
1 paper
NM_000142.5
p.R570L
c.1709G>T
1 paper
NM_000142.5
p.R570W
c.1708C>T
2 papers
NM_000142.5
p.R571W
c.1711C>T
1 paper
NM_000142.5
p.A569A
c.1707G>C
3 papers
NM_000142.5
p.A569V
c.1706C>T
1 paper
NM_000142.5
p.R571Q
c.1712G>A
1 paper
NM_000142.5
p.R571L
c.1712G>T
1 paper
NM_000142.5
p.A569T
c.1705G>A
2 papers
NM_022965.4
p.P460delFs
c.1378delC
NM_000142.5
p.P573delFs
c.1718delC
1 paper
NM_022965.4
p.P460fs
c.1378_1379fs
2 papers
NM_000142.5
p.P572A
c.1714C>G
1 paper
NM_000142.5
p.P572L
c.1715C>T
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