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

1–12 of 3425 variants

211 papers

NM_023110.3

p.N546K

c.1638C>G

211 papers

NM_023110.3

p.N546K

c.1638C>A

160 papers

NM_023110.3

p.K656E

c.1966A>G

124 papers

NM_023110.3

p.P252R

c.755C>G

71 papers

NM_023110.3

p.V561M

c.1681G>A

41 papers

NM_023110.3

p.S125L

c.374C>T

31 papers

NM_023110.3

p.R622*

c.1864C>T

28 papers

NM_023110.3

p.V102I

c.304G>A

28 papers

NM_023110.3

p.P252T

c.754C>A

26 papers

NM_023110.3

p.Y99C

c.296A>G

26 papers

NM_023110.3

p.G687R

c.2059G>C

26 papers

NM_023110.3

p.G687R

c.2059G>A