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

2 papers

NM_023110.3

p.T20I

c.59C>T

Surrounding Variants

1 paper

NM_023110.3

p.T20ins9

c.59_60ins27

2 papers

NM_023110.3

p.A21T

c.61G>A

1 paper

NM_023110.3

p.L18_C19delFs

c.54_55delAG

1 paper

NM_023110.3

p.A21G

c.62C>G

1 paper

NM_023110.3

p.A21delFs

c.61delC

1 paper

NM_023110.3

p.C19insFs

c.55_56insG

1 paper

NM_023110.3

p.C19R

c.55T>C

1 paper

NM_023110.3

p.C19S

c.55T>A

1 paper

NM_023110.3

p.C19fs

c.55_56fs

4 papers

NM_023110.3

p.R22S

c.66G>T

4 papers

NM_023110.3

p.R22S

c.66G>C

4 papers

NM_023110.3

p.T17T

c.51A>T

NM_001174067.2

p.T50T

c.150A>T