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

6 papers

NM_000142.5

p.V630M

c.1888G>A

Surrounding Variants

1 paper

NM_000142.5

p.V630L

c.1888G>C

1 paper

NM_000142.5

p.N629N

c.1887C>T

1 paper

NM_000142.5

p.N629Y

c.1885A>T

1 paper

NM_000142.5

p.D628V

c.1883A>T

1 paper

NM_000142.5

p.M631I

c.1893G>A

1 paper

NM_000142.5

p.M631I

c.1893G>C

1 paper

NM_000142.5

p.M631I

c.1893G>T

2 papers

NM_000142.5

p.D628N

c.1882G>A

1 paper

NM_000142.5

p.K632T

c.1895A>C

1 paper

NM_000142.5

p.K632R

c.1895A>G

4 papers

NM_000142.5

p.E627D

c.1881G>C

4 papers

NM_000142.5

p.E627D

c.1881G>T