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.E140E

c.420A>G

Surrounding Variants

2 papers

NM_023110.3

p.T141A

c.421A>G

1 paper

NM_023110.3

p.S134_E140ins2

c.400_420dup21

13 papers

NM_023110.3

p.T141R

c.422C>G

2 papers

NM_023110.3

p.D142Y

c.424G>T

1 paper

NM_023110.3

p.E140_T141delFs

c.420_423del4

2 papers

NM_023110.3

p.K139E

c.415A>G

1 paper

NM_023110.3

p.D142delFs

c.424_425delTC

2 papers

NM_023110.3

p.E138*

c.412G>T

1 paper

NM_023110.3

p.E138K

c.412G>A

1 paper

NM_023110.3

p.S136_E137del2

c.406_410del6

1 paper

NM_023110.3

p.D142_N143delFs

c.424_427del4

2 papers

NM_023110.3

p.E137G

c.410A>G

NM_001174067.2

p.E170G

c.509A>G