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.D599ins0

c.1795_1797dupGAC

Surrounding Variants

1 paper

NM_023110.3

p.L600V

c.1798C>G

1 paper

NM_023110.3

p.L600M

c.1798C>A

1 paper

NM_023110.3

p.L600delins

c.1798delinsTACA

1 paper

NM_023110.3

p.L600R

c.1799T>G

1 paper

NM_023110.3

p.L600P

c.1799T>C

3 papers

NM_023110.3

p.L600Q

c.1799T>A

1 paper

NM_023110.3

p.D599_L600delins

c.1796_1799delinsG

1 paper

NM_023110.3

p.D599D

c.1797C>T

1 paper

NM_023110.3

p.D599E

c.1797C>G

1 paper

NM_023110.3

p.D599_L600ins1

c.1797_1798insACA

1 paper

NM_023110.3

p.D599E

c.1797C>A

1 paper

NM_023110.3

p.L600fs

c.1798_1799fs