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

3 papers

NM_023110.3

p.P150S

c.448C>T

Surrounding Variants

1 paper

NM_023110.3

p.P150Splc

c.448+1G>C

2 papers

NM_023110.3

p.P150Splc

c.448+1G>A

1 paper

NM_023110.3

p.M149ins1

c.446_447insGAA

1 paper

NM_023110.3

p.P150Splc

c.448+3G>A

4 papers

NM_023110.3

p.R148H

c.443G>A

2 papers

NM_023110.3

p.P150Splc

c.448+5G>A

1 paper

NM_023110.3

p.R148S

c.442C>A

1 paper

NM_023110.3

p.N147S

c.440A>G

1 paper

NM_001174067.2

p.P179L

c.536C>T

3 papers

NM_023110.3

p.P146S

c.436C>T

1 paper

NM_023110.3

p.K145insFs

c.434_435ins8

1 paper

NM_023110.3

p.K145N

c.435A>T