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

41 papers

NM_023110.3

p.S125L

c.374C>T

Surrounding Variants

2 papers

NM_023110.3

p.S125delins

c.373_374delinsGA

1 paper

NM_023110.3

p.S125ins1

c.373_374insTCA

2 papers

NM_023110.3

p.S125S

c.375G>C

1 paper

NM_023110.3

p.S125S

c.375G>A

1 paper

NM_023110.3

p.S124_S125del1

c.372_374delGAG

1 paper

NM_023110.3

p.E126*

c.376G>T

1 paper

NM_023110.3

p.E126K

c.376G>A

1 paper

NM_023110.3

p.S125del1

c.373_374delCGA

1 paper

NM_023110.3

p.E126fs

c.376_377fs

1 paper

NM_023110.3

p.S124F

c.371C>T

1 paper

NM_023110.3

p.E126G

c.377A>G

1 paper

NM_023110.3

p.S125_E126insFs

c.373_376dup4