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

1 paper

NM_001354809.2

p.G562V

c.1685G>T

Surrounding Variants

2 papers

NM_000142.5

p.G561S

c.1681G>A

1 paper

NM_000142.5

p.G561R

c.1681G>C

1 paper

NM_000142.5

p.K560N

c.1680G>C

3 papers

NM_000142.5

p.K560E

c.1678A>G

1 paper

NM_000142.5

p.L563V

c.1687C>G

1 paper

NM_000142.5

p.A559V

c.1676C>T

1 paper

NM_000142.5

p.A559T

c.1675G>A

3 papers

NM_000142.5

p.R564W

c.1690C>T

2 papers

NM_000142.5

p.A558V

c.1673C>T

5 papers

NM_001163213.2

p.A560T

c.1678G>A

NM_000142.5

p.A558T

c.1672G>A

1 paper

NM_000142.5

p.E565*

c.1693G>T

1 paper

NM_022965.4

p.E453_F454delFs

c.1358_1361del4