Varaico: Literature-Extracted Genetic Variants

FGFR1

2,164 papers

RefSeq Summary

The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family...

Pfam Domains

igaa 41–114UCSCImmunoglobulin domain

I-setaa 158–245UCSCImmunoglobulin I-set domain

I-setaa 257–356UCSCImmunoglobulin I-set domain

PK_Tyr_Ser-Thraa 474–750UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 1

HGNC Previous Symbols

FLT2; KAL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_023110.3

p.T319fs

c.955_956fs

Surrounding Variants

2 papers

NM_023110.3

p.D320Y

c.958G>T

3 papers

NM_001354369.2

p.D318N

c.952G>A

NM_023110.3

p.D320N

c.958G>A

1 paper

NM_023110.3

p.T319fs

c.955_956fs

1 paper

NM_001354369.2

p.D318G

c.953A>G

1 paper

NM_023110.3

p.T319A

c.955A>G

2 papers

NM_023110.3

p.K321fs

c.961_962fs

1 paper

NM_023110.3

p.T318A

c.952A>G

1 paper

NM_023110.3

p.N317_T318insFs

c.951_952ins4

1 paper

NM_023110.3

p.K321K

c.963A>G

2 papers

NM_023110.3

p.K321fs

c.961_962fs

1 paper

NM_023110.3

p.K321insFs

c.963dupA

1 paper

NM_023110.3

p.E322K

c.964G>A