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

5 papers

NM_023110.3

p.G337R

c.1009G>A

Surrounding Variants

2 papers

NM_023110.3

p.G337R

c.1009G>C

1 paper

NM_023110.3

p.E338*

c.1012G>T

2 papers

NM_001174067.2

p.A367T

c.1099G>A

NM_023110.3

p.A336T

c.1006G>A

1 paper

NM_023110.3

p.E338K

c.1012G>A

1 paper

NM_023110.3

p.D335Fs

c.1003delinsGAFs

1 paper

NM_001174067.2

p.D366A

c.1097A>C

2 papers

NM_023110.3

p.Y339H

c.1015T>C

11 papers

NM_023110.3

p.Y339C

c.1016A>G

1 paper

NM_023110.3

p.Y339insFs

c.1016_1017insA

2 papers

NM_023110.3

p.E334insFs

c.1001_1002insC

1 paper

NM_023110.3

p.E334Q

c.1000G>C

1 paper

NM_023110.3

p.E334K

c.1000G>A