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.Y583*

c.1749C>G

Surrounding Variants

1 paper

NM_023110.3

p.Y583Y

c.1749C>T

1 paper

NM_023110.3

p.Y583*

c.1749C>A

1 paper

NM_023110.3

p.C584G

c.1750T>G

1 paper

NM_023110.3

p.C584R

c.1750T>C

14 papers

NM_023110.3

p.C584S

c.1750T>A

10 papers

NM_023110.3

p.Y583F

c.1748A>T

1 paper

NM_023110.3

p.Y583C

c.1748A>G

1 paper

NM_023110.3

p.Y583S

c.1748A>C

1 paper

NM_023110.3

p.Y583D

c.1747T>G

1 paper

NM_023110.3

p.Y583H

c.1747T>C

1 paper

NM_023110.3

p.Y583N

c.1747T>A

1 paper

NM_023110.3

p.C584F

c.1751G>T