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

26 papers

NM_023110.3

p.Y99C

c.296A>G

Surrounding Variants

1 paper

NM_023110.3

p.Y99S

c.296A>C

2 papers

NM_023110.3

p.Y99H

c.295T>C

2 papers

NM_023110.3

p.Y99_A100insFs

c.297_298insT

1 paper

NM_023110.3

p.L98insFs

c.293_294insC

1 paper

NM_023110.3

p.L98delins

c.292delinsCGAC

1 paper

NM_023110.3

p.L98P

c.293T>C

1 paper

NM_023110.3

p.D90_Y99del10

c.268_296del30

1 paper

NM_023110.3

p.A100insFs

c.299_300ins22

1 paper

NM_023110.3

p.L98F

c.292C>T

1 paper

NM_023110.3

p.S96_G97del2

c.286_290del6

2 papers

NM_023110.3

p.C101G

c.301T>G

1 paper

NM_023110.3

p.C101fs

c.301_302fs