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_015850.4

p.S697F

c.2090C>T

Surrounding Variants

1 paper

NM_023110.3

p.S699insFs

c.2096_2097insG

1 paper

NM_023110.3

p.S699P

c.2095T>C

1 paper

NM_023110.3

p.P700fs

c.2098_2099fs

1 paper

NM_023110.3

p.G698insFs

c.2093_2094insAC

1 paper

NM_023110.3

p.P700L

c.2099C>T

1 paper

NM_023110.3

p.G698S

c.2092G>A

1 paper

NM_023110.3

p.P700fs

c.2098_2099fs

1 paper

NM_023110.3

p.G697G

c.2091C>T

1 paper

NM_023110.3

p.G697_G698insFs

c.2091_2092ins10

1 paper

NM_023110.3

p.G697delFs

c.2090delC

1 paper

NM_023110.3

p.Y701C

c.2102A>G

2 papers

NM_023110.3

p.G697C

c.2089G>T