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

5 papers

NM_000142.5

p.E42K

c.124G>A

Surrounding Variants

1 paper

NM_000142.5

p.P41P

c.123A>C

1 paper

NM_000142.5

p.P41S

c.121C>T

1 paper

NM_000142.5

p.P43_Q46delFs

c.128_138del11

1 paper

NM_000142.5

p.G40D

c.119G>A

1 paper

NM_000142.5

p.G40A

c.119G>C

12 papers

NM_000142.5

p.G44S

c.130G>A

1 paper

NM_000142.5

p.G40C

c.118G>T

1 paper

NM_000142.5

p.G44C

c.130G>T

1 paper

NM_000142.5

p.P39P

c.117G>T

1 paper

NM_000142.5

p.P39T

c.115C>A

1 paper

NM_000142.5

p.P39A

c.115C>G

1 paper

NM_000142.5

p.P39S

c.115C>T