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.K540E

c.1618A>G

Surrounding Variants

1 paper

NM_023110.3

p.K540*

c.1618A>T

1 paper

NM_023110.3

p.K540Q

c.1618A>C

1 paper

NM_023110.3

p.G539insFs

c.1615dupG

1 paper

NM_023110.3

p.G539G

c.1617G>T

1 paper

NM_023110.3

p.G539G

c.1617G>C

1 paper

NM_023110.3

p.G539G

c.1617G>A

1 paper

NM_023110.3

p.K540M

c.1619A>T

1 paper

NM_023110.3

p.K540R

c.1619A>G

1 paper

NM_023110.3

p.K540T

c.1619A>C

1 paper

NM_023110.3

p.K540N

c.1620G>T

1 paper

NM_023110.3

p.G539V

c.1616G>T

1 paper

NM_023110.3

p.K540N

c.1620G>C