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.H717L

c.2150A>T

Surrounding Variants

2 papers

NM_023110.3

p.H717R

c.2150A>G

1 paper

NM_023110.3

p.H717P

c.2150A>C

1 paper

NM_023110.3

p.H717Q

c.2151C>G

1 paper

NM_023110.3

p.H717Q

c.2151C>A

1 paper

NM_023110.3

p.H717N

c.2149C>A

6 papers

NM_023110.3

p.R718G

c.2152C>G

1 paper

NM_023110.3

p.G716V

c.2147G>T

2 papers

NM_023110.3

p.G716D

c.2147G>A

1 paper

NM_023110.3

p.R718H

c.2153G>A

1 paper

NM_023110.3

p.G716S

c.2146G>A

1 paper

NM_023110.3

p.K714_E715del2

c.2140_2144del6

1 paper

NM_023110.3

p.E715D

c.2145G>T