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.G270V

c.809G>T

Surrounding Variants

1 paper

NM_023110.3

p.G270A

c.809G>C

4 papers

NM_023110.3

p.G270D

c.809G>A

1 paper

NM_023110.3

p.G270S

c.808G>A

1 paper

NM_023110.3

p.P262_L269del8

c.784_806del24

1 paper

NM_023110.3

p.S271G

c.811A>G

1 paper

NM_023110.3

p.L269P

c.806T>C

1 paper

NM_023110.3

p.A268V

c.803C>T

7 papers

NM_023110.3

p.A268S

c.802G>T

2 papers

NM_023110.3

p.A268P

c.802G>C

1 paper

NM_023110.3

p.A268T

c.802G>A

2 papers

NM_023110.3

p.N272N

c.816C>T

1 paper

NM_023110.3

p.N272insFs

c.815dupA