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.I560S

c.1679T>G

Surrounding Variants

2 papers

NM_023110.3

p.I560T

c.1679T>C

1 paper

NM_023110.3

p.I560N

c.1679T>A

1 paper

NM_023110.3

p.I560I

c.1680C>T

1 paper

NM_023110.3

p.I560M

c.1680C>G

1 paper

NM_023110.3

p.I560I

c.1680C>A

1 paper

NM_023110.3

p.I560F

c.1678A>T

1 paper

NM_023110.3

p.I560V

c.1678A>G

1 paper

NM_023110.3

p.I560L

c.1678A>C

4 papers

NM_023110.3

p.V561L

c.1681G>T

4 papers

NM_023110.3

p.V561L

c.1681G>C

71 papers

NM_023110.3

p.V561M

c.1681G>A

1 paper

NM_023110.3

p.V559V

c.1677C>T