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

5 papers

NM_023110.3

p.K321delFs

c.961_962delTT

Surrounding Variants

1 paper

NM_023110.3

p.K321insFs

c.963dupA

1 paper

NM_023110.3

p.E322K

c.964G>A

1 paper

NM_023110.3

p.K321K

c.963A>G

2 papers

NM_023110.3

p.K321fs

c.961_962fs

1 paper

NM_023110.3

p.E322fs

c.964_965fs

2 papers

NM_023110.3

p.K321fs

c.961_962fs

6 papers

NM_023110.3

p.M323I

c.969G>T

6 papers

NM_023110.3

p.M323I

c.969G>C

6 papers

NM_023110.3

p.M323I

c.969G>A

1 paper

NM_001354369.2

p.D318G

c.953A>G

3 papers

NM_023110.3

p.E324*

c.970G>T

2 papers

NM_023110.3

p.D320Y

c.958G>T