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.V629L

c.1885G>C

Surrounding Variants

1 paper

NM_023110.3

p.V629F

c.1885G>T

2 papers

NM_023110.3

p.V629I

c.1885G>A

10 papers

NM_023110.3

p.N628K

c.1884T>G

1 paper

NM_023110.3

p.V629A

c.1886T>C

10 papers

NM_023110.3

p.N628K

c.1884T>A

1 paper

NM_023110.3

p.V629V

c.1887C>T

1 paper

NM_023110.3

p.V629V

c.1887C>G

1 paper

NM_023110.3

p.V629V

c.1887C>A

7 papers

NM_023110.3

p.N628S

c.1883A>G

1 paper

NM_001174067.2

p.L661L

c.1981C>T

1 paper

NM_023110.3

p.L630V

c.1888C>G

1 paper

NM_023110.3

p.L630M

c.1888C>A