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.Q606E

c.1816C>G

Surrounding Variants

1 paper

NM_023110.3

p.Q606*

c.1816C>T

2 papers

NM_023110.3

p.Q606K

c.1816C>A

1 paper

NM_023110.3

p.Y605*

c.1815C>G

1 paper

NM_023110.3

p.Y605*

c.1815C>A

1 paper

NM_023110.3

p.Q606L

c.1817A>T

2 papers

NM_023110.3

p.Q606R

c.1817A>G

1 paper

NM_023110.3

p.Q606P

c.1817A>C

1 paper

NM_023110.3

p.Q606H

c.1818G>T

1 paper

NM_023110.3

p.Q606H

c.1818G>C

1 paper

NM_023110.3

p.Y605F

c.1814A>T

1 paper

NM_023110.3

p.Y605C

c.1814A>G

1 paper

NM_023110.3

p.Y605S

c.1814A>C