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.S96_G97del2

c.286_290del6

Surrounding Variants

1 paper

NM_023110.3

p.L98F

c.292C>T

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.G97V

c.290G>T

10 papers

NM_023110.3

p.G97D

c.290G>A

1 paper

NM_001174067.2

p.V125_G130del0

c.374_388del15

2 papers

NM_023110.3

p.Y99H

c.295T>C

1 paper

NM_023110.3

p.G97R

c.289G>C

9 papers

NM_023110.3

p.G97S

c.289G>A

1 paper

NM_001174064.2

p.S88delFs

c.263_264delGG

1 paper

NM_023110.3

p.S96del1

c.286_288delGGA