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.E633E

c.1899G>A

Surrounding Variants

1 paper

NM_023110.3

p.E633D

c.1899G>T

1 paper

NM_023110.3

p.E633D

c.1899G>C

1 paper

NM_023110.3

p.D634Y

c.1900G>T

1 paper

NM_023110.3

p.D634H

c.1900G>C

1 paper

NM_023110.3

p.D634N

c.1900G>A

1 paper

NM_023110.3

p.E633G

c.1898A>G

1 paper

NM_023110.3

p.E633A

c.1898A>C

1 paper

NM_023110.3

p.E633*

c.1897G>T

2 papers

NM_023110.3

p.E633K

c.1897G>A

1 paper

NM_023110.3

p.D634E

c.1902C>G

1 paper

NM_023110.3

p.D634E

c.1902C>A

1 paper

NM_023110.3

p.T632I

c.1895C>T