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.A640S

c.1918G>T

Surrounding Variants

1 paper

NM_023110.3

p.A640V

c.1919C>T

1 paper

NM_023110.3

p.A640G

c.1919C>G

1 paper

NM_023110.3

p.I639M

c.1917A>G

1 paper

NM_023110.3

p.I639R

c.1916T>G

6 papers

NM_023110.3

p.I639T

c.1916T>C

1 paper

NM_023110.3

p.I639K

c.1916T>A

1 paper

NM_023110.3

p.D641Y

c.1921G>T

11 papers

NM_023110.3

p.D641N

c.1921G>A

1 paper

NM_023110.3

p.I639L

c.1915A>T

1 paper

NM_023110.3

p.I639V

c.1915A>G

1 paper

NM_023110.3

p.I639L

c.1915A>C

1 paper

NM_023110.3

p.K638N

c.1914G>T