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_000142.5

p.Q286H

c.858G>T

Surrounding Variants

1 paper

NM_000142.5

p.Q286H

c.858G>C

1 paper

NM_000142.5

p.Q286L

c.857A>T

1 paper

NM_000142.5

p.Q286*

c.856C>T

1 paper

NM_000142.5

p.W287*

c.860G>A

1 paper

NM_000142.5

p.W287L

c.860G>T

1 paper

NM_000142.5

p.I285M

c.855C>G

1 paper

NM_000142.5

p.W287*

c.861G>A

1 paper

NM_000142.5

p.L288V

c.862C>G

3 papers

NM_000142.5

p.I285N

c.854T>A

3 papers

NM_000142.5

p.I285V

c.853A>G

1 paper

NM_000142.5

p.L288P

c.863T>C

1 paper

NM_000142.5

p.L288R

c.863T>G