Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.M529I

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.M529I
c.1587G>T
Surrounding Variants
2 papers
NM_000142.5
p.M529I
c.1587G>A
NM_001163213.2
p.M531I
c.1593G>A
1 paper
NM_000142.5
p.M529I
c.1587G>C
15 papers
NM_000142.5
p.M528I
c.1584G>A
15 papers
NM_000142.5
p.M528I
c.1584G>C
1 paper
NM_000142.5
p.K530N
c.1590G>C
15 papers
NM_000142.5
p.M528I
c.1584G>T
1 paper
NM_000142.5
p.K530N
c.1590G>T
4 papers
NM_000142.5
p.M531I
c.1593G>A
3 papers
NM_000142.5
p.M531I
c.1593G>C
1 paper
NM_000142.5
p.E527D
c.1581G>C
3 papers
NM_000142.5
p.M531I
c.1593G>T
1 paper
NM_000142.5
p.E527D
c.1581G>T
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