Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.L385M

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.L385M
c.1153C>A
Surrounding Variants
1 paper
NM_000142.5
p.L385L
c.1153C>T
73 papers
NM_000142.5
p.F384L
c.1152C>A
NM_001163213.2
p.F386L
c.1158C>A
73 papers
NM_000142.5
p.F384L
c.1152C>G
NM_001163213.2
p.F386L
c.1158C>G
1 paper
NM_000142.5
p.F384I
c.1150T>A
1 paper
NM_000142.5
p.F386I
c.1156T>A
77 papers
NM_000142.5
p.F384L
c.1150T>C
NM_001163213.2
p.F386L
c.1156T>C
32 papers
NM_000142.5
p.F386L
c.1156T>C
31 papers
NM_000142.5
p.F386L
c.1158C>A
32 papers
NM_000142.5
p.F386L
c.1158C>G
2 papers
NM_000142.5
p.F383S
c.1148T>C
1 paper
NM_000142.5
p.I387L
c.1159A>C
2 papers
NM_001163213.2
p.F385V
c.1153T>G
NM_000142.5
p.F383V
c.1147T>G
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