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.K617T

c.1850A>C

Surrounding Variants

1 paper

NM_023110.3

p.K617M

c.1850A>T

1 paper

NM_023110.3

p.K617R

c.1850A>G

1 paper

NM_023110.3

p.K617N

c.1851G>T

1 paper

NM_023110.3

p.K617N

c.1851G>C

1 paper

NM_023110.3

p.K617K

c.1851G>A

2 papers

NM_023110.3

p.S616_K617delins

c.1848_1849delinsCT

1 paper

NM_023110.3

p.K617E

c.1849A>G

1 paper

NM_023110.3

p.K617Q

c.1849A>C

1 paper

NM_023110.3

p.S616S

c.1848C>T

1 paper

NM_023110.3

p.S616S

c.1848C>G

1 paper

NM_023110.3

p.S616S

c.1848C>A

1 paper

NM_023110.3

p.K618*

c.1852A>T