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.K655R

c.1964A>G

Surrounding Variants

9 papers

NM_023110.3

p.K655I

c.1964A>T

2 papers

NM_023110.3

p.K655*

c.1963A>T

1 paper

NM_023110.3

p.K655N

c.1965A>T

1 paper

NM_023110.3

p.K655N

c.1965A>C

1 paper

NM_023110.3

p.Y654insFs

c.1962dupT

3 papers

NM_023110.3

p.Y654insFs

c.1961dupA

7 papers

NM_023110.3

p.Y654*

c.1962T>G

7 papers

NM_023110.3

p.Y654*

c.1962T>A

1 paper

NM_023110.3

p.K656*

c.1966A>T

161 papers

NM_023110.3

p.K656E

c.1966A>G

NM_015850.4

p.K654E

c.1960A>G

3 papers

NM_023110.3

p.K656Q

c.1966A>C

12 papers

NM_023110.3

p.K656M

c.1967A>T