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.D723_L724insGGA

c.2167_2171ins9

Surrounding Variants

3 papers

NM_000142.5

p.D722N

c.2164G>A

1 paper

NM_000142.5

p.H721R

c.2162A>G

1 paper

NM_001163213.2

p.H723_D724insGGA

c.2167_2171ins9

1 paper

NM_000142.5

p.L723_Y724insGGA

c.2167_2171ins9

1 paper

NM_000142.5

p.H721Y

c.2161C>T

1 paper

NM_000142.5

p.L723L

c.2167C>T

1 paper

NM_000142.5

p.L723P

c.2168T>C

1 paper

NM_000142.5

p.L723Splc

c.2168+1G>A

3 papers

NM_000142.5

p.C719S

c.2156G>C

NM_001163213.2

p.C721S

c.2162G>C

2 papers

NM_000142.5

p.C719S

c.2155T>A

NM_001163213.2

p.C721S

c.2161T>A

1 paper

NM_000142.5

p.C719delFs

c.2156delG

3 papers

NM_000142.5

p.N718S

c.2153A>G