Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.G382R

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
68 papers
NM_000142.5
p.G382R
c.1144G>C
Surrounding Variants
20 papers
NM_000142.5
p.G382S
c.1144G>A
1 paper
NM_000142.5
p.G382C
c.1144G>T
1 paper
NM_000142.5
p.G382fs
c.1144_1145fs
14 papers
NM_000142.5
p.G382D
c.1145G>A
2 papers
NM_000142.5
p.G382A
c.1145G>C
1 paper
NM_000142.5
p.G382delFs
c.1146delC
14 papers
NM_000142.5
p.V381E
c.1142T>A
1 paper
NM_000142.5
p.V381A
c.1142T>C
1 paper
NM_000142.5
p.V381M
c.1141G>A
1 paper
NM_000142.5
p.V381L
c.1141G>C
1 paper
NM_000142.5
p.V381L
c.1141G>T
2 papers
NM_001163213.2
p.F385V
c.1153T>G
NM_000142.5
p.F383V
c.1147T>G
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