Varaico: Literature-Extracted Genetic Variants

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

81 papers

NM_000142.5

p.G697C

c.2089G>T

Surrounding Variants

3 papers

NM_000142.5

p.G697S

c.2089G>A

1 paper

NM_000142.5

p.G697fs

c.2089_2090fs

1 paper

NM_000142.5

p.G697D

c.2090G>A

2 papers

NM_000142.5

p.P696L

c.2087C>T

1 paper

NM_000142.5

p.I698F

c.2092A>T

5 papers

NM_000142.5

p.P696S

c.2086C>T

1 paper

NM_000142.5

p.P696_K705del10

c.2086_2114del30

1 paper

NM_000142.5

p.P696delFs

c.2088delC

1 paper

NM_000142.5

p.I698I

c.2094C>A

1 paper

NM_000142.5

p.Y695H

c.2083T>C

1 paper

NM_000142.5

p.P699H

c.2096C>A

1 paper

NM_000142.5

p.P699L

c.2096C>T