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.P579Q

c.1736C>A

Surrounding Variants

1 paper

NM_023110.3

p.P579L

c.1736C>T

1 paper

NM_023110.3

p.P579R

c.1736C>G

1 paper

NM_023110.3

p.P579S

c.1735C>T

1 paper

NM_023110.3

p.P579A

c.1735C>G

1 paper

NM_023110.3

p.P579T

c.1735C>A

2 papers

NM_023110.3

p.R576_P578delFs

c.1727_1734del8

1 paper

NM_023110.3

p.P579P

c.1737A>T

1 paper

NM_023110.3

p.P579P

c.1737A>G

1 paper

NM_023110.3

p.P579P

c.1737A>C

1 paper

NM_023110.3

p.G580W

c.1738G>T

1 paper

NM_023110.3

p.G580R

c.1738G>C

1 paper

NM_023110.3

p.G580R

c.1738G>A