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.L548P

c.1643T>C

Surrounding Variants

1 paper

NM_023110.3

p.L548R

c.1643T>G

1 paper

NM_023110.3

p.L548Q

c.1643T>A

1 paper

NM_023110.3

p.L548L

c.1644G>T

1 paper

NM_023110.3

p.L548L

c.1644G>C

1 paper

NM_023110.3

p.L548L

c.1644G>A

1 paper

NM_023110.3

p.L548L

c.1642C>T

1 paper

NM_023110.3

p.L548V

c.1642C>G

1 paper

NM_023110.3

p.L548M

c.1642C>A

1 paper

NM_023110.3

p.G549W

c.1645G>T

1 paper

NM_023110.3

p.L547L

c.1641G>T

1 paper

NM_023110.3

p.G549R

c.1645G>C

1 paper

NM_023110.3

p.L547L

c.1641G>C