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

18 papers

NM_023110.3

p.G348R

c.1042G>A

Surrounding Variants

17 papers

NM_023110.3

p.G348R

c.1042G>C

1 paper

NM_023110.3

p.G348fs

c.1042_1043fs

5 papers

NM_023110.3

p.G348E

c.1043G>A

NM_001174066.2

p.G259E

c.776G>A

1 paper

NM_023110.3

p.I347I

c.1041C>T

2 papers

NM_023110.3

p.I347fs

c.1039_1040fs

1 paper

NM_023110.3

p.I347I

c.1041C>A

1 paper

NM_023110.3

p.I347insFs

c.1039dupA

1 paper

NM_023110.3

p.I347delFs

c.1039delT

3 papers

NM_023110.3

p.I347fs

c.1039_1040fs

2 papers

NM_023110.3

p.S346_I347insFs

c.1038_1039insT

2 papers

NM_023110.3

p.S346_I347insFs

c.1038_1039insTT

1 paper

NM_023110.3

p.S346delFs

c.1037_1038delAG