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

3 papers

NM_023110.3

p.E41K

c.121G>A

Surrounding Variants

1 paper

NM_023110.3

p.E41ins1

c.121_122insGTG

1 paper

NM_023110.3

p.V40G

c.119T>G

1 paper

NM_023110.3

p.V40M

c.118G>A

1 paper

NM_023110.3

p.V38_S42delFs

c.112_124del13

1 paper

NM_023110.3

p.E39D

c.117A>T

1 paper

NM_023110.3

p.F43insFs

c.127_128insG

1 paper

NM_023110.3

p.E39K

c.115G>A

1 paper

NM_023110.3

p.F43C

c.128T>G

1 paper

NM_023110.3

p.V38V

c.114G>T

1 paper

NM_023110.3

p.V38M

c.112G>A

1 paper

NM_023110.3

p.A36_P37insFs

c.107_110dup4

1 paper

NM_023110.3

p.L44Q

c.131T>A