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.D49N

c.145G>A

Surrounding Variants

5 papers

NM_023110.3

p.D49V

c.146A>T

2 papers

NM_023110.3

p.G48C

c.142G>T

2 papers

NM_023110.3

p.G48R

c.142G>C

11 papers

NM_023110.3

p.G48S

c.142G>A

1 paper

NM_023110.3

p.L50L

c.148C>T

1 paper

NM_023110.3

p.L50L

c.150G>C

1 paper

NM_023110.3

p.L51fs

c.151_152fs

1 paper

NM_023110.3

p.H46delFs

c.136_137delTG

1 paper

NM_023110.3

p.F43_H46delFs

c.128_138del11

1 paper

NM_023110.3

p.L51delFs

c.151delG

2 papers

NM_023110.3

p.H46Q

c.138C>G

2 papers

NM_023110.3

p.H46Q

c.138C>A