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.Q594L

c.1781A>T

Surrounding Variants

2 papers

NM_023110.3

p.Q594R

c.1781A>G

1 paper

NM_023110.3

p.Q594P

c.1781A>C

1 paper

NM_023110.3

p.Q594H

c.1782G>T

1 paper

NM_023110.3

p.Q594H

c.1782G>C

4 papers

NM_023110.3

p.Q594*

c.1780C>T

1 paper

NM_023110.3

p.Q594E

c.1780C>G

1 paper

NM_023110.3

p.Q594K

c.1780C>A

1 paper

NM_023110.3

p.E593D

c.1779G>T

1 paper

NM_023110.3

p.E593D

c.1779G>C

1 paper

NM_023110.3

p.L595F

c.1783C>T

1 paper

NM_023110.3

p.L595V

c.1783C>G

1 paper

NM_023110.3

p.L595insFs

c.1783_1784ins4