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.Q422K

c.1264C>A

Surrounding Variants

1 paper

NM_000142.5

p.Q422L

c.1265A>T

6 papers

NM_000142.5

p.R421Q

c.1262G>A

1 paper

NM_000142.5

p.K420delFs

c.1260delG

1 paper

NM_000142.5

p.L419F

c.1255C>T

1 paper

NM_000142.5

p.P418L

c.1253C>T

3 papers

NM_000142.5

p.P418S

c.1252C>T

1 paper

NM_000142.5

p.F417F

c.1251C>T

1 paper

NM_000142.5

p.R416R

c.1248C>G

1 paper

NM_000142.5

p.R416H

c.1247G>A

1 paper

NM_000142.5

p.R416L

c.1247G>T

1 paper

NM_000142.5

p.R416G

c.1246C>G

1 paper

NM_001163213.2

p.R418C

c.1252C>T