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.E361Q

c.1081G>C

Surrounding Variants

3 papers

NM_000142.5

p.E361K

c.1081G>A

1 paper

NM_000142.5

p.E360V

c.1079A>T

1 paper

NM_000142.5

p.E361D

c.1083G>C

1 paper

NM_000142.5

p.E361D

c.1083G>T

3 papers

NM_000142.5

p.E360K

c.1078G>A

2 papers

NM_000142.5

p.E362K

c.1084G>A

1 paper

NM_000142.5

p.E362Q

c.1084G>C

1 paper

NM_000142.5

p.E362*

c.1084G>T

1 paper

NM_000142.5

p.E362V

c.1085A>T

1 paper

NM_000142.5

p.L363fs

c.1087_1088fs

1 paper

NM_000142.5

p.A359Splc

c.1076-1G>A

1 paper

NM_000142.5

p.A359Splc

c.1076-2A>G